PMID: 19956101

Overview of the Rapid Response data.

Genes and immunity
WM Brown, JJ Pierce, JE Hilner, LH Perdue, K Lohman, L Lu, PI de Bakker, K Irenze, L Ziaugra, DB Mirel,
2009-12

265 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-27373612-T-C IL4R c.939T>C p.Phe313Phe Synonymous 11/11 -
10-44866208-C-T CXCL12 c.*2568G>A - 3-UTRSNV 4/4 -
12-48274135-C-T VDR c.1-1239G>A - IntronicSNV - 1/9
X-49130831-C-T PPP1R3F c.1004+3495C>T - IntronicSNV - 1/3
10-6062108-G-A IL2RA c.584-204C>T - IntronicSNV - 4/7
12-113336255-C-T RPH3A c.*1670C>T - 3-UTRSNV 21/21 -
16-27374180-T-C IL4R c.1507T>C p.Ser503Pro Missense 11/11 -
5-158752139-C-T IL12B c.88+1564G>A - IntronicSNV - 2/7
4-57194525-C-G KIAA1211 c.*555C>G - 3-UTRSNV 11/11 -
10-6094354-A-C IL2RA c.64+9697T>G - IntronicSNV - 1/7
2-163207480-T-C GCA c.193-1368T>C - IntronicSNV - 2/7
7-127234990-C-A FSCN3 c.145-371C>A - IntronicSNV - 1/6
10-6064181-T-G IL2RA c.368-525A>C - IntronicSNV - 3/7
2-227656435-G-T IRS1 c.*3291C>A - IntronicSNV 2/2 -
2-163128824-T-C IFIH1 c.2528A>G p.His843Arg Missense 13/16 -
2-204733588-T-A CTLA4 c.109+814T>A - IntronicSNV - 1/3
12-48265006-A-G VDR c.147-6046T>C - IntronicSNV - 3/9
16-27356667-T-G IL4R c.361+326T>G - IntronicSNV - 5/10
1-114420462-G-A BCL2L15 c.*3283C>T - 3-UTRSNV 4/4 -
12-113328981-G-A RPH3A c.1763+173G>A - IntronicSNV - 18/20
12-48262964-G-A VDR c.147-4004C>T - IntronicSNV - 3/9
1-114339751-A-G RSBN1 c.1377+234T>C - IntronicSNV - 2/6
11-2181395-C-G INS c.188-168G>C - IntronicSNV - 2/2
3-123378534-C-G MYLK c.3986-2259G>C - IntronicSNV - 23/33
12-48255411-T-C VDR c.277+3419A>G - IntronicSNV - 4/9
10-6079479-A-G IL2RA c.65-11491T>C - IntronicSNV - 1/7
10-44875459-T-A CXCL12 c.179+752A>T - IntronicSNV - 2/3
2-227651967-A-T IRS1 c.*7759T>A - IntronicSNV - 1/1
2-227660544-C-T IRS1 c.2911G>A p.Gly971Arg Missense 1/2 -
1-114344083-C-T RSBN1 c.704-3425G>A - IntronicSNV - 1/6
1-114369734-A-G PTPN22 c.2251-1940T>C - IntronicSNV - 18/20
11-2181395-C-T INS c.188-168G>A - IntronicSNV - 2/2
10-44874821-A-G CXCL12 c.180-650T>C - IntronicSNV - 2/3
10-6098949-C-T IL2RA c.64+5102G>A - IntronicSNV - 1/7
16-27364345-G-T IL4R c.670+328G>T - IntronicSNV - 7/10
12-113335661-C-A RPH3A c.*1076C>A - 3-UTRSNV 21/21 -
10-44866275-T-A CXCL12 c.*2501A>T - 3-UTRSNV 4/4 -
16-27331974-C-G IL4R c.-152+6633C>G - intron_variant - 1/10
5-132036252-T-A KIF3A c.1857+87A>T - IntronicSNV - 14/16
5-132036252-T-C KIF3A c.1857+87A>G - IntronicSNV - 14/16
10-6055150-T-C IL2RA c.795-291A>G - IntronicSNV - 7/7
10-6089571-G-A IL2RA c.64+14480C>T - IntronicSNV - 1/7
12-48296486-A-G VDR c.-84+2252T>C - intron_variant - 1/9
10-6101713-T-C IL2RA c.64+2338A>G - IntronicSNV - 1/7
10-6101713-T-A IL2RA c.64+2338A>T - IntronicSNV - 1/7
5-132014832-G-A IL4 c.184-574G>A - IntronicSNV - 2/3
10-6081217-A-G IL2RA c.65-13229T>C - IntronicSNV - 1/7
3-60898434-T-C FHIT c.-110-90729A>G - intron_variant - 3/9
10-6069893-C-A IL2RA c.65-1905G>T - IntronicSNV - 1/7
10-6069893-C-T IL2RA c.65-1905G>A - IntronicSNV - 1/7
12-48252927-T-C VDR c.278-1456A>G - IntronicSNV - 4/9
16-27341059-A-G IL4R c.-151-328A>G - intron_variant - 1/10
10-6103762-C-T IL2RA c.64+289G>A - IntronicSNV - 1/7
16-81816733-C-T PLCG2 c.1-2862C>T - IntronicSNV - 1/32
12-48263828-G-T VDR c.147-4868C>A - IntronicSNV - 3/9
10-6082396-A-C IL2RA c.65-14408T>G - IntronicSNV - 1/7
12-48283625-G-A VDR c.1-10729C>T - IntronicSNV - 1/9
5-133451683-C-A TCF7 c.55C>A p.Pro19Thr Missense 2/10 -
5-133451683-C-G TCF7 c.55C>G p.Pro19Ala Missense 2/10 -
5-133451683-C-T TCF7 c.55C>T p.Pro19Ser Missense 2/10 -
5-133452535-C-T TCF7 c.96+811C>T - IntronicSNV - 2/9
12-48266167-G-C VDR c.146+6584C>G - IntronicSNV - 3/9
10-6057732-G-T IL2RA c.794+2284C>A - IntronicSNV - 7/7
16-27373872-A-T IL4R c.1199A>T p.Glu400Val Missense 11/11 -
16-27373872-A-G IL4R c.1199A>G p.Glu400Gly Missense 11/11 -
16-27373872-A-C IL4R c.1199A>C p.Glu400Ala Missense 11/11 -
1-114401231-A-G PTPN22 c.274-36T>C - IntronicSNV - 3/20
12-48262964-G-C VDR c.147-4004C>G - IntronicSNV - 3/9
16-27365453-C-T IL4R c.670+1436C>T - IntronicSNV - 7/10
1-114429461-G-A BCL2L15 c.128-181C>T - IntronicSNV - 1/3
10-6082953-G-T IL2RA c.65-14965C>A - IntronicSNV - 1/7
16-27374927-T-G IL4R c.2254T>G p.Ser752Ala Missense 11/11 -
16-27365453-C-A IL4R c.670+1436C>A - IntronicSNV - 7/10
2-163237390-C-G KCNH7 c.2963-859G>C - IntronicSNV - 13/15
1-114374435-C-T PTPN22 c.2053+1298G>A - IntronicSNV - 16/20
12-48288246-G-A VDR c.-84+10492C>T - intron_variant - 1/9
1-114338589-A-G RSBN1 c.1377+1396T>C - IntronicSNV - 2/6
16-27359836-C-T IL4R c.513+1897C>T - IntronicSNV - 6/10
12-113335731-G-T RPH3A c.*1146G>T - 3-UTRSNV 21/21 -
10-6055604-C-T IL2RA c.795-745G>A - IntronicSNV - 7/7
X-49088571-T-C CACNA1F c.26-182A>G - IntronicSNV - 1/47
5-158750993-T-C IL12B c.89-656A>G - IntronicSNV - 2/7
16-27341059-A-C IL4R c.-151-328A>C - intron_variant - 1/10
12-48273714-G-A VDR c.1-818C>T - IntronicSNV - 2/9
10-6086093-C-T IL2RA c.64+17958G>A - IntronicSNV - 1/7
10-6086093-C-A IL2RA c.64+17958G>T - IntronicSNV - 1/7
10-6077796-T-C IL2RA c.65-9808A>G - IntronicSNV - 1/7
1-114429340-T-C BCL2L15 c.128-60A>G - IntronicSNV - 1/3
10-6078032-G-A IL2RA c.65-10044C>T - IntronicSNV - 1/7
1-114420328-C-T BCL2L15 c.*3417G>A - 3-UTRSNV 4/4 -
10-6098824-T-C IL2RA c.64+5227A>G - IntronicSNV - 1/7
10-6057732-G-A IL2RA c.794+2284C>T - IntronicSNV - 7/7
10-44874821-A-C CXCL12 c.180-650T>G - IntronicSNV - 2/3
1-114420328-C-A BCL2L15 c.*3417G>T - 3-UTRSNV 4/4 -
12-48287373-C-A VDR c.-83-10816G>T - intron_variant - 1/9
1-114394463-C-T PTPN22 c.828+186G>A - IntronicSNV - 10/20
2-204734487-C-T CTLA4 c.110-822C>T - IntronicSNV - 1/3
12-48238900-C-T VDR c.1025-112G>A - IntronicSNV - 9/9
1-114366434-T-C PTPN22 c.2281+1330A>G - IntronicSNV - 19/20
12-48238900-C-G VDR c.1025-112G>C - IntronicSNV - 9/9
16-27359021-A-C IL4R c.513+1082A>C - IntronicSNV - 6/10
X-49129023-G-T PPP1R3F c.1004+1687G>T - IntronicSNV - 1/3
10-6063319-C-T IL2RA c.583+122G>A - IntronicSNV - 4/7
5-132012725-T-C IL4 c.183+2527T>C - IntronicSNV - 2/3
12-48269410-A-C VDR c.146+3341T>G - IntronicSNV - 3/9
10-44871062-G-A CXCL12 c.267-2271C>T - IntronicSNV - 3/3
12-48296268-C-T VDR c.-84+2470G>A - intron_variant - 1/9
1-114419760-G-T BCL2L15 c.*3985C>A - 3-UTRSNV 4/4 -
7-127233977-G-T FSCN3 c.70G>T p.Ala24Ser Missense 1/7 -
10-44866208-C-G CXCL12 c.*2568G>C - 3-UTRSNV 4/4 -
10-6097165-T-C IL2RA c.64+6886A>G - IntronicSNV - 1/7
10-6088699-A-G IL2RA c.64+15352T>C - IntronicSNV - 1/7
10-6067688-A-G IL2RA c.256+109T>C - IntronicSNV - 2/7
16-27358351-G-C IL4R c.513+412G>C - IntronicSNV - 6/10
10-6064181-T-C IL2RA c.368-525A>G - IntronicSNV - 3/7
16-27358351-G-A IL4R c.513+412G>A - IntronicSNV - 6/10
12-113335425-A-T RPH3A c.*840A>T - 3-UTRSNV 21/21 -
7-127236338-C-T FSCN3 c.842-44C>T - IntronicSNV - 2/6
5-158747564-A-C IL12B c.483-36T>G - IntronicSNV - 4/7
3-60898434-T-G FHIT c.-110-90729A>C - intron_variant - 3/9
1-114419760-G-C BCL2L15 c.*3985C>G - 3-UTRSNV 4/4 -
1-114419760-G-A BCL2L15 c.*3985C>T - 3-UTRSNV 4/4 -
10-6066568-G-A IL2RA c.257-251C>T - IntronicSNV - 2/7
10-6086292-G-C IL2RA c.64+17759C>G - IntronicSNV - 1/7
12-113357193-G-C OAS1 c.1039-99G>C - IntronicSNV - 5/5
5-35910529-C-T CAPSL c.254G>A p.Arg85Gln Missense 3/5 -
16-27364345-G-A IL4R c.670+328G>A - IntronicSNV - 7/10
10-6060433-C-T IL2RA c.728-351G>A - IntronicSNV - 6/7
1-114399433-C-T PTPN22 c.409-192G>A - IntronicSNV - 5/20
12-113357193-G-A OAS1 c.1039-99G>A - IntronicSNV - 5/5
10-6092093-C-T IL2RA c.64+11958G>A - IntronicSNV - 1/7
5-158744660-T-C IL12B c.856-836A>G - IntronicSNV - 6/7
16-27346354-T-C IL4R c.-19+4835T>C - intron_variant - 2/10
16-27346354-T-A IL4R c.-19+4835T>A - intron_variant - 2/10
16-27346354-T-G IL4R c.-19+4835T>G - intron_variant - 2/10
12-48251542-G-A VDR c.278-71C>T - IntronicSNV - 4/9
5-131977127-C-T RAD50 c.3752+630C>T - IntronicSNV - 24/24
X-49093528-T-C CCDC22 c.51-25T>C - IntronicSNV - 1/16
12-48251542-G-C VDR c.278-71C>G - IntronicSNV - 4/9
16-27350687-A-G IL4R c.1-838A>G - IntronicSNV - 2/10
12-48250794-T-A VDR c.583+118A>T - IntronicSNV - 6/9
5-158750993-T-A IL12B c.89-656A>T - IntronicSNV - 2/7
16-27356203-A-T IL4R c.223A>T p.Ile75Phe Missense 5/11 -
16-27356203-A-G IL4R c.223A>G p.Ile75Val Missense 5/11 -
10-6079846-G-A IL2RA c.65-11858C>T - IntronicSNV - 1/7
16-27352819-G-A IL4R c.71-623G>A - IntronicSNV - 3/10
11-2181060-T-G INS c.*22A>C - 3-UTRSNV 3/3 -
10-6052841-C-A IL2RA c.*1994G>T - 3-UTRSNV 8/8 -
10-6090322-A-T IL2RA c.64+13729T>A - IntronicSNV - 1/7
12-48295351-T-C VDR c.-84+3387A>G - intron_variant - 1/9
2-227661043-T-C IRS1 c.2412A>G p.Ala804Ala Synonymous 1/2 -
10-6095410-A-T IL2RA c.64+8641T>A - IntronicSNV - 1/7
10-44868257-C-T CXCL12 c.*519G>A - 3-UTRSNV 4/4 -
10-6063253-A-G IL2RA c.583+188T>C - IntronicSNV - 4/7
2-204733588-T-C CTLA4 c.109+814T>C - IntronicSNV - 1/3
10-44878713-G-A CXCL12 c.61+1680C>T - IntronicSNV - 1/3
5-133458714-T-C TCF7 c.96+6990T>C - IntronicSNV - 2/9
10-6087794-G-A IL2RA c.64+16257C>T - IntronicSNV - 1/7
12-48258635-C-T VDR c.277+195G>A - IntronicSNV - 4/9
16-27336427-G-A IL4R c.-151-4960G>A - intron_variant - 1/10
16-27364253-C-T IL4R c.670+236C>T - IntronicSNV - 7/10
16-27371949-A-G IL4R c.850-138A>G - IntronicSNV - 9/10
7-127236338-C-A FSCN3 c.842-44C>A - IntronicSNV - 2/6
7-127236338-C-G FSCN3 c.842-44C>G - IntronicSNV - 2/6
10-6100725-G-A IL2RA c.64+3326C>T - IntronicSNV - 1/7
12-48295488-T-A VDR c.-84+3250A>T - intron_variant - 1/9
16-27359836-C-A IL4R c.513+1897C>A - IntronicSNV - 6/10
20-48301146-G-C B4GALT5 c.116-27907C>G - IntronicSNV - 1/8
20-48301146-G-A B4GALT5 c.116-27907C>T - IntronicSNV - 1/8
5-158749088-G-T IL12B c.482+314C>A - IntronicSNV - 4/7
5-158755845-G-C IL12B c.-1+1595C>G - intron_variant - 1/7
5-158755845-G-A IL12B c.-1+1595C>T - intron_variant - 1/7
19-42085873-A-G CEACAM21 c.592A>G p.Met198Val Missense 3/7 -
10-6086292-G-A IL2RA c.64+17759C>T - IntronicSNV - 1/7
10-6086292-G-T IL2RA c.64+17759C>A - IntronicSNV - 1/7
12-48280665-C-A VDR c.-83-4108G>T - intron_variant - 1/9
12-48280665-C-G VDR c.-83-4108G>C - intron_variant - 1/9
10-6078796-G-A IL2RA c.65-10808C>T - IntronicSNV - 1/7
12-113335425-A-G RPH3A c.*840A>G - 3-UTRSNV 21/21 -
12-113335425-A-C RPH3A c.*840A>C - 3-UTRSNV 21/21 -
2-227603905-C-A IRS1 c.*22-2939G>T - intron_variant - 1/1
10-44870240-C-T CXCL12 c.267-1449G>A - IntronicSNV - 3/3
16-27373964-T-C IL4R c.1291T>C p.Cys431Arg Missense 11/11 -
5-133455961-G-A TCF7 c.96+4237G>A - IntronicSNV - 2/9
2-227603905-C-T IRS1 c.*22-2939G>A - intron_variant - 1/1
11-2190951-C-T TH c.241G>A p.Val81Met Missense 2/13 -
16-27375029-T-C IL4R c.2356T>C p.Ser786Pro Missense 11/11 -
16-27356203-A-C IL4R c.223A>C p.Ile75Leu Missense 5/11 -
10-6053163-T-A IL2RA c.*1672A>T - 3-UTRSNV 8/8 -
10-6094354-A-T IL2RA c.64+9697T>A - IntronicSNV - 1/7
7-127237862-C-A FSCN3 c.961-627C>A - IntronicSNV - 3/6
12-48280665-C-T VDR c.-83-4108G>A - intron_variant - 1/9
1-114377148-T-A PTPN22 c.1895-87A>T - IntronicSNV - 14/20
10-6055604-C-A IL2RA c.795-745G>T - IntronicSNV - 7/7
1-114377148-T-C PTPN22 c.1895-87A>G - IntronicSNV - 14/20
10-44874567-T-A CXCL12 c.180-396A>T - IntronicSNV - 2/3
10-44874567-T-C CXCL12 c.180-396A>G - IntronicSNV - 2/3
10-6087295-G-T IL2RA c.64+16756C>A - IntronicSNV - 1/7
16-27367334-C-T IL4R c.770+106C>T - IntronicSNV - 8/10
16-27358098-A-C IL4R c.513+159A>C - IntronicSNV - 6/10
10-6103762-C-A IL2RA c.64+289G>T - IntronicSNV - 1/7
12-48285648-G-T VDR c.-83-9091C>A - intron_variant - 1/9
10-6059898-C-A IL2RA c.794+118G>T - IntronicSNV - 7/7
12-48285648-G-A VDR c.-83-9091C>T - intron_variant - 1/9
12-48285414-G-A VDR c.-83-8857C>T - intron_variant - 1/9
10-6080712-T-C IL2RA c.65-12724A>G - IntronicSNV - 1/7
10-6056294-T-C IL2RA c.795-1435A>G - IntronicSNV - 7/7
10-44871548-G-T CXCL12 c.266+2537C>A - IntronicSNV - 3/3
10-44871548-G-A CXCL12 c.266+2537C>T - IntronicSNV - 3/3
16-27375157-T-C IL4R c.*6T>C - 3-UTRSNV 11/11 -
2-227660544-C-G IRS1 c.2911G>C p.Gly971Arg Missense 1/2 -
5-133464657-T-C TCF7 c.97-9093T>C - IntronicSNV - 2/9
X-49095215-T-G CCDC22 c.228+1485T>G - IntronicSNV - 2/16
X-49095215-T-C CCDC22 c.228+1485T>C - IntronicSNV - 2/16
5-133461586-G-A TCF7 c.96+9862G>A - IntronicSNV - 2/9
5-133461586-G-T TCF7 c.96+9862G>T - IntronicSNV - 2/9
5-158749088-G-A IL12B c.482+314C>T - IntronicSNV - 4/7
5-96372165-G-A LNPEP c.*7928G>A - IntergenicSNV 18/18 -
5-131996500-A-C IL13 c.*526A>C - 3-UTRSNV 4/4 -
5-132012725-T-G IL4 c.183+2527T>G - IntronicSNV - 2/3
6-149721690-G-A SUMO4 c.163G>A p.Val55Met Missense 1/1 -
10-6085312-G-A IL2RA c.65-17324C>T - IntronicSNV - 1/7
1-114427293-G-T BCL2L15 c.249+1866C>A - IntronicSNV - 2/3
10-6080637-A-C IL2RA c.65-12649T>G - IntronicSNV - 1/7
8-16907125-G-A MICU3 c.382-14468G>A - IntronicSNV - 1/14
3-19959756-G-A EFHB c.1145C>T p.Thr382Ile Missense 4/13 -
3-19959756-G-T EFHB c.1145C>A p.Thr382Asn Missense 4/13 -
5-132013299-C-A IL4 c.184-2107C>A - IntronicSNV - 2/3
1-114426824-T-G BCL2L15 c.250-2205A>C - IntronicSNV - 2/3
5-132013299-C-G IL4 c.184-2107C>G - IntronicSNV - 2/3
5-132013299-C-T IL4 c.184-2107C>T - IntronicSNV - 2/3
12-48269410-A-G VDR c.146+3341T>C - IntronicSNV - 3/9
12-48293605-C-A VDR c.-84+5133G>T - intron_variant - 1/9
12-48293605-C-G VDR c.-84+5133G>C - intron_variant - 1/9
7-127241980-C-T FSCN3 c.*304C>T - 3_prime_UTR_variant 7/7 -
12-48273714-G-C VDR c.1-818C>G - IntronicSNV - 2/9
11-2186335-A-G TH c.1334+127T>C - IntronicSNV - 12/12
10-6087026-A-C IL2RA c.64+17025T>G - IntronicSNV - 1/7
10-6066462-G-A IL2RA c.257-145C>T - IntronicSNV - 2/7
1-114351706-C-T RSBN1 c.703+2626G>A - IntronicSNV - 1/6
X-49118241-T-G FOXP3 c.-23+2882A>C - intron_variant - 1/11
X-49118241-T-A FOXP3 c.-23+2882A>T - intron_variant - 1/11
2-227636423-A-G IRS1 c.*23303T>C - IntronicSNV - 1/1
5-131995843-T-C IL13 c.334-24T>C - IntronicSNV - 3/3
5-131995843-T-A IL13 c.334-24T>A - IntronicSNV - 3/3
12-48293037-C-A VDR c.-84+5701G>T - intron_variant - 1/9
12-48259126-C-T VDR c.147-166G>A - IntronicSNV - 3/9
10-44878713-G-C CXCL12 c.61+1680C>G - IntronicSNV - 1/3
5-158755960-G-A IL12B c.-1+1480C>T - intron_variant - 1/7
12-48255570-G-A VDR c.277+3260C>T - IntronicSNV - 4/9
10-6079479-A-C IL2RA c.65-11491T>G - IntronicSNV - 1/7
12-48257766-T-C VDR c.277+1064A>G - IntronicSNV - 4/9
16-27375787-A-G IL4R c.*636A>G - 3-UTRSNV 11/11 -
7-127234990-C-T FSCN3 c.145-371C>T - IntronicSNV - 1/6
7-127233977-G-A FSCN3 c.70G>A p.Ala24Thr Missense 1/7 -
12-113345699-A-C OAS1 c.181-642A>C - IntronicSNV - 1/5
5-133468000-A-G TCF7 c.97-5750A>G - IntronicSNV - 2/9
5-131977127-C-G RAD50 c.3752+630C>G - IntronicSNV - 24/24
1-114351706-C-A RSBN1 c.703+2626G>T - IntronicSNV - 1/6
12-48278487-G-A VDR c.-83-1930C>T - intron_variant - 1/9
1-114412667-G-A PTPN22 c.87+1492C>T - IntronicSNV - 1/20
16-27365453-C-G IL4R c.670+1436C>G - IntronicSNV - 7/10
12-48256046-C-G VDR c.277+2784G>C - IntronicSNV - 4/9
1-114413731-C-A PTPN22 c.87+428G>T - IntronicSNV - 1/20
10-6053374-A-G IL2RA c.*1461T>C - 3-UTRSNV 8/8 -