PMID: 23190900

Association of cardiovascular and metabolic disease genes with psoriasis.

The Journal of investigative dermatology
Y Lu, H Chen, P Nikamo, H Qi Low, C Helms, M Seielstad, J Liu, AM Bowcock, M Stahle, W Liao
2013-03

130 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
10-18708798-A-T CACNB2 c.168+17826A>T - IntronicSNV - 2/12
3-41877414-T-C ULK4 c.1706A>G p.Lys569Arg Missense 18/37 -
3-138119952-T-C MRAS c.527+497T>C - IntronicSNV - 5/5
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
6-35034800-G-C ANKS1A c.2184+6770G>C - IntronicSNV - 13/23
3-123094451-T-C ADCY5 c.1135-23023A>G - IntronicSNV - 1/20
6-127452639-C-G RSPO3 c.97+12205C>G - IntronicSNV - 1/4
1-56966350-A-G PLPP3 c.811-4002T>C - IntronicSNV - 5/5
7-107244545-C-T BCAP29 c.589+3595C>T - IntronicSNV - 6/7
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
22-29451671-A-G ZNRF3 c.*2061A>G - 3-UTRSNV 9/9 -
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
7-72129667-C-T TYW1B c.1506+30010G>A - intron_variant - 12/14
15-67458639-T-C SMAD3 c.533-478T>C - IntronicSNV - 3/8
12-123796238-C-T SBNO1 c.3218-562G>A - IntronicSNV - 24/31
5-173362458-G-A CPEB4 c.1258+2955G>A - IntronicSNV - 3/9
3-12628920-G-C RAF1 c.1417+170C>G - IntronicSNV - 13/16
3-85884150-A-G CADM2 c.217+32804A>G - IntronicSNV - 2/9
3-41912651-G-T ULK4 c.1656+12715C>A - IntronicSNV - 17/36
4-6303022-C-G WFS1 c.1500C>G p.Asn500Lys Missense 8/8 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
3-41912651-G-A ULK4 c.1656+12715C>T - IntronicSNV - 17/36
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
10-18707448-T-C CACNB2 c.168+16476T>C - IntronicSNV - 2/12
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
6-116312893-A-T FRK c.466+12147T>A - IntronicSNV - 2/7
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
2-161171454-T-C RBMS1 c.311-1696A>G - IntronicSNV - 3/13
3-169100886-T-C MECOM c.38-1574A>G - IntronicSNV - 1/16
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
6-20703952-A-G CDKAL1 c.372-35798A>G - IntronicSNV - 5/15
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
1-93009438-C-A EVI5 c.2118+19761G>T - IntronicSNV - 17/17
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
11-16902268-C-T PLEKHA7 c.222-9539G>A - IntronicSNV - 3/22
1-172346548-G-A DNM3 c.1894-1610G>A - IntronicSNV - 17/20
17-45013271-T-C GOSR2 c.*625T>C - 3-UTRSNV 5/5 -
22-38546033-T-A PLA2G6 c.210-4373A>T - IntronicSNV - 2/15
22-38546033-T-C PLA2G6 c.210-4373A>G - IntronicSNV - 2/15
3-169100886-T-A MECOM c.38-1574A>T - IntronicSNV - 1/16
12-90008959-A-G ATP2B1 c.2067+1620T>C - IntronicSNV - 12/20
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
1-119503843-C-G TBX15 c.-114+28135G>C - intron_variant - 1/7
1-119503843-C-A TBX15 c.-114+28135G>T - intron_variant - 1/7
10-95895940-A-G PLCE1 c.1492+3724A>G - IntronicSNV - 3/32
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
2-43618819-C-T THADA c.4227+6291G>A - IntronicSNV - 29/37
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
10-104594507-A-G CYP17A1 c.666+35T>C - IntronicSNV - 3/7
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
17-46988597-C-T UBE2Z c.390+355C>T - IntronicSNV - 2/6
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
11-100593538-G-C ARHGAP42 c.154+34975G>C - IntronicSNV - 1/23
5-95751785-T-C PCSK1 c.661A>G p.Asn221Asp Missense 6/14 -
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
14-79945162-A-G NRXN3 c.429+11417A>G - IntronicSNV - 2/6
6-12927544-C-G PHACTR1 c.251-126053C>G - IntronicSNV - 4/14
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
15-91437388-A-C FES c.2326+100A>C - IntronicSNV - 18/18
15-91437388-A-T FES c.2326+100A>T - IntronicSNV - 18/18
1-220973563-C-T MARC1 c.753+2207C>T - IntronicSNV - 4/6
6-20657865-A-G CDKAL1 c.371+8257A>G - IntronicSNV - 5/15
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
15-79080234-C-T ADAMTS7 c.1322+339G>A - IntronicSNV - 8/23
6-20688121-T-G CDKAL1 c.371+38513T>G - IntronicSNV - 5/15
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
12-90060586-G-A ATP2B1 c.1-10923C>T - IntergenicSNV - 1/20
16-53845487-C-A FTO c.123+1358C>A - IntronicSNV - 2/8
16-53845487-C-G FTO c.123+1358C>G - IntronicSNV - 2/8
11-18632984-T-C SPTY2D1 c.1964+40A>G - IntronicSNV - 5/5
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
5-53298025-G-A ARL15 c.462+111007C>T - IntronicSNV - 4/4
10-91004886-A-G LIPA c.229+547T>C - IntronicSNV - 3/9
10-91004886-A-C LIPA c.229+547T>G - IntronicSNV - 3/9
2-135837906-C-A RAB3GAP1 c.151-10662C>A - IntronicSNV - 3/23
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
6-31616366-G-A BAG6 c.552+88C>T - IntronicSNV - 6/24
3-52506426-C-T NISCH c.669+12C>T - IntronicSNV - 6/20
17-36096515-T-C HNF1B c.545-2701A>G - IntronicSNV - 2/8
17-36096515-T-G HNF1B c.545-2701A>C - IntronicSNV - 2/8
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
7-28196222-A-G JAZF1 c.115+23860T>C - IntronicSNV - 1/4
3-185530290-T-C IGF2BP2 c.239+10651A>G - IntronicSNV - 2/15
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
17-47402807-C-T ZNF652 c.1-7720G>A - IntronicSNV - 1/5
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
14-79936964-T-C NRXN3 c.429+3219T>C - IntronicSNV - 2/6
16-53769677-G-A FTO c.45+31536G>A - IntronicSNV - 1/8
1-93009438-C-G EVI5 c.2118+19761G>C - IntronicSNV - 17/17
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
11-100593538-G-A ARHGAP42 c.154+34975G>A - IntronicSNV - 1/23
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
17-66875294-C-G ABCA8 c.3919-1474G>C - IntronicSNV - 30/37
15-44245931-A-T FRMD5 c.103-29424T>A - IntronicSNV - 1/13
11-16902268-C-A PLEKHA7 c.222-9539G>T - IntronicSNV - 3/22
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
17-2126504-G-C SMG6 c.145+13282C>G - IntronicSNV - 3/11
8-116648565-A-C TRPS1 c.1-12701T>G - IntronicSNV - 1/6
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
6-20688121-T-A CDKAL1 c.371+38513T>A - IntronicSNV - 5/15
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6