PMID: 20401335

Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics insights
A Driss, KO Asare, JM Hibbert, BE Gee, TV Adamkiewicz, JK Stiles
2009-07-30

232 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-203426668-T-G BMPR2 c.*1999T>G - 3-UTRSNV 13/13 -
13-33613132-G-A KL c.820-14772G>A - IntronicSNV - 1/4
13-33623164-G-A KL c.820-4740G>A - IntronicSNV - 1/4
13-33610711-T-C KL c.820-17193T>C - IntronicSNV - 1/4
7-150708302-G-T NOS3 c.2984+228G>T - IntronicSNV - 23/26
13-28916343-T-A FLT1 c.2356-2906A>T - IntronicSNV - 16/29
13-28916343-T-C FLT1 c.2356-2906A>G - IntronicSNV - 16/29
12-117720185-C-A NOS1 c.1383-1514G>T - IntronicSNV - 7/28
1-92174415-G-A TGFBR3 c.2167-75C>T - IntronicSNV - 13/16
1-21585661-T-C ECE1 c.616-329A>G - IntronicSNV - 5/18
8-59790210-G-C TOX c.412-25846C>G - IntronicSNV - 3/8
8-59790210-G-A TOX c.412-25846C>T - IntronicSNV - 3/8
21-39797764-C-A ERG c.237-2281G>T - IntronicSNV - 2/9
8-59725048-A-G TOX c.1392+2849T>C - IntronicSNV - 7/8
16-27374180-T-C IL4R c.1507T>C p.Ser503Pro Missense 11/11 -
9-133364632-A-T ASS1 c.839-88A>T - IntronicSNV - 12/15
13-28997400-G-A FLT1 c.1436+3896C>T - IntronicSNV - 10/29
13-28973621-G-A FLT1 c.1552-2416C>T - IntronicSNV - 11/29
21-39849553-T-G ERG c.18+20734A>C - IntronicSNV - 1/9
7-150707488-C-T NOS3 c.2685+113C>T - IntronicSNV - 21/26
15-99499493-G-A IGF1R c.3723-797G>A - IntronicSNV - 20/20
13-28976389-C-T FLT1 c.1551+3528G>A - IntronicSNV - 11/29
16-4056927-A-G ADCY9 c.1884+442T>C - IntronicSNV - 3/10
6-137179387-G-A PEX7 c.527-8378G>A - IntronicSNV - 5/9
13-33595200-T-G KL c.819+3803T>G - IntronicSNV - 1/4
12-96409201-A-G LTA4H c.1059+160T>C - IntronicSNV - 11/18
6-7772992-A-G BMP6 c.664+45140A>G - IntronicSNV - 1/6
9-27123260-A-G TEK c.52+13620A>G - IntronicSNV - 1/22
8-59982532-C-G TOX c.102+48913G>C - IntronicSNV - 1/8
8-59846111-T-A TOX c.411+5750A>T - IntronicSNV - 3/8
8-59982532-C-A TOX c.102+48913G>T - IntronicSNV - 1/8
1-21585014-C-T ECE1 c.762+172G>A - IntronicSNV - 6/18
2-60720951-A-C BCL11A c.386-24983T>G - IntronicSNV - 2/3
13-33610151-T-G KL c.820-17753T>G - IntronicSNV - 1/4
9-27187216-C-T TEK c.1327+1589C>T - IntronicSNV - 9/22
9-27187216-C-G TEK c.1327+1589C>G - IntronicSNV - 9/22
8-59937116-T-G TOX c.103-64549A>C - IntronicSNV - 1/8
2-60721347-G-A BCL11A c.386-25379C>T - IntronicSNV - 2/3
15-60640228-C-T ANXA2 c.961-340G>A - IntronicSNV - 13/13
8-59958141-A-T TOX c.102+73304T>A - IntronicSNV - 1/8
4-55976168-C-T KDR c.1255+402G>A - IntronicSNV - 9/29
8-59958141-A-G TOX c.102+73304T>C - IntronicSNV - 1/8
1-92170708-A-G TGFBR3 c.2287+3512T>C - IntronicSNV - 14/16
19-11243445-A-G LDLR c.*1453A>G - 3-UTRSNV 18/18 -
2-60720246-C-T BCL11A c.386-24278G>A - IntronicSNV - 2/3
15-66731285-G-C MAP2K1 c.438+2055G>C - IntronicSNV - 3/10
12-117696041-T-G NOS1 c.2531+161A>C - IntronicSNV - 16/28
12-117655131-C-G NOS1 c.4289+720G>C - IntronicSNV - 28/28
3-30696816-T-C TGFBR2 c.529+4864T>C - IntronicSNV - 4/7
8-59939182-A-T TOX c.103-66615T>A - IntronicSNV - 1/8
3-30696816-T-A TGFBR2 c.529+4864T>A - IntronicSNV - 4/7
1-92162443-C-T TGFBR3 c.2330-1107G>A - IntronicSNV - 15/16
13-29049784-C-T FLT1 c.65-8030G>A - IntronicSNV - 1/29
13-29049784-C-A FLT1 c.65-8030G>T - IntronicSNV - 1/29
13-29045852-A-G FLT1 c.65-4098T>C - IntronicSNV - 1/29
13-33628989-A-G KL c.1331-195A>G - IntronicSNV - 2/4
21-39786927-G-A ERG c.388+8405C>T - IntronicSNV - 3/9
8-59734839-C-T TOX c.1005+4542G>A - IntronicSNV - 6/8
15-66710894-G-A MAP2K1 c.81-16471G>A - IntronicSNV - 1/10
1-92246048-C-G TGFBR3 c.246+16796G>C - IntronicSNV - 3/16
8-59883327-A-T TOX c.103-10760T>A - IntronicSNV - 1/8
13-33600277-T-C KL c.819+8880T>C - IntronicSNV - 1/4
13-29044352-T-C FLT1 c.65-2598A>G - IntronicSNV - 1/29
6-137207304-G-A PEX7 c.804-11976G>A - IntronicSNV - 8/9
9-133358026-A-G ASS1 c.838+2190A>G - IntronicSNV - 12/15
10-88568565-G-A BMPR1A c.-267-30057G>A - intron_variant - 1/12
6-7768852-G-T BMP6 c.664+41000G>T - IntronicSNV - 1/6
6-7877419-A-C BMP6 c.1205-1888A>C - IntronicSNV - 4/6
6-155739768-T-A NOX3 c.1308+4060A>T - IntronicSNV - 10/13
15-67365622-A-G SMAD3 c.206+6924A>G - IntronicSNV - 1/8
13-33595128-G-A KL c.819+3731G>A - IntronicSNV - 1/4
13-33595128-G-C KL c.819+3731G>C - IntronicSNV - 1/4
13-33593100-C-A KL c.819+1703C>A - IntronicSNV - 1/4
8-59738913-G-C TOX c.1005+468C>G - IntronicSNV - 6/8
7-98645565-C-G SMURF1 c.1032-60G>C - IntronicSNV - 10/18
6-91227681-C-T MAP3K7 c.1640+485G>A - IntronicSNV - 16/16
13-33635463-T-C KL c.2247T>C p.Ala749Ala Synonymous 4/5 -
6-155739768-T-G NOX3 c.1308+4060A>C - IntronicSNV - 10/13
15-67033151-T-C SMAD6 c.952+24315T>C - IntronicSNV - 3/3
8-59718696-C-T TOX c.*1610G>A - 3-UTRSNV 9/9 -
1-92221454-A-T TGFBR3 c.384+2716T>A - IntronicSNV - 4/16
1-21585014-C-A ECE1 c.762+172G>T - IntronicSNV - 6/18
8-59738913-G-A TOX c.1005+468C>T - IntronicSNV - 6/8
14-68117421-T-C ARG2 c.860-11T>C - IntronicSNV - 7/7
13-33599659-A-G KL c.819+8262A>G - IntronicSNV - 1/4
12-96403989-T-A LTA4H c.1380-1063A>T - IntronicSNV - 14/18
4-55965719-A-G KDR c.2267-749T>C - IntronicSNV - 15/29
15-99281833-C-A IGF1R c.640+30497C>A - IntronicSNV - 2/20
16-4156423-T-C ADCY9 c.1693+7328A>G - IntronicSNV - 2/10
16-4156423-T-G ADCY9 c.1693+7328A>C - IntronicSNV - 2/10
8-59842670-A-C TOX c.411+9191T>G - IntronicSNV - 3/8
6-91256661-G-C MAP3K7 c.1210+316C>G - IntronicSNV - 11/16
6-91256661-G-T MAP3K7 c.1210+316C>A - IntronicSNV - 11/16
8-59947423-C-T TOX c.103-74856G>A - IntronicSNV - 1/8
4-55966801-C-T KDR c.2266+1263G>A - IntronicSNV - 15/29
13-29044352-T-G FLT1 c.65-2598A>C - IntronicSNV - 1/29
9-133346920-A-C ASS1 c.597+18A>C - IntronicSNV - 9/15
9-133346920-A-G ASS1 c.597+18A>G - IntronicSNV - 9/15
15-99281833-C-G IGF1R c.640+30497C>G - IntronicSNV - 2/20
6-136838061-T-C MAP7 c.67+33419A>G - IntronicSNV - 1/17
8-59886312-T-C TOX c.103-13745A>G - IntronicSNV - 1/8
6-12294258-A-G EDN1 c.318A>G p.Glu106Glu Synonymous 3/5 -
9-133364632-A-C ASS1 c.839-88A>C - IntronicSNV - 12/15
4-96020228-A-G BMPR1B c.1-5348A>G - IntronicSNV - 3/12
6-155739924-C-T NOX3 c.1308+3904G>A - IntronicSNV - 10/13
6-155739924-C-G NOX3 c.1308+3904G>C - IntronicSNV - 10/13
15-99499493-G-C IGF1R c.3723-797G>C - IntronicSNV - 20/20
15-99499493-G-T IGF1R c.3723-797G>T - IntronicSNV - 20/20
6-137105400-C-T MAP3K5 c.448+7448G>A - IntronicSNV - 1/29
7-116379094-C-T MET c.1393-910C>T - IntronicSNV - 3/20
15-67406475-G-A SMAD3 c.206+47777G>A - IntronicSNV - 1/8
6-7840781-T-A BMP6 c.665-4592T>A - IntronicSNV - 1/6
8-59740890-T-G TOX c.925-1429A>C - IntronicSNV - 5/8
8-59734839-C-G TOX c.1005+4542G>C - IntronicSNV - 6/8
8-59937643-G-A TOX c.103-65076C>T - IntronicSNV - 1/8
15-58476281-A-G AQP9 c.835A>G p.Thr279Ala Missense 6/6 -
14-68117006-C-A ARG2 c.860-426C>A - IntronicSNV - 7/7
16-67973953-G-A LCAT c.1177C>T p.Leu393Leu Synonymous 6/6 -
6-7872352-C-T BMP6 c.1205-6955C>T - IntronicSNV - 4/6
6-7845244-C-T BMP6 c.665-129C>T - IntronicSNV - 1/6
1-169580510-C-T SELP c.1147+220G>A - IntronicSNV - 7/16
13-31333431-T-C ALOX5AP c.323+3269T>C - IntronicSNV - 4/4
1-101196787-G-A VCAM1 c.1238G>A p.Gly413Asp Missense 6/9 -
1-92242186-C-T TGFBR3 c.247-17879G>A - IntronicSNV - 3/16
13-33622695-C-T KL c.820-5209C>T - IntronicSNV - 1/4
8-59744222-C-T TOX c.925-4761G>A - IntronicSNV - 5/8
6-136353305-C-T PDE7B c.83-76564C>T - IntronicSNV - 2/12
9-133343659-C-T ASS1 c.495+1473C>T - IntronicSNV - 7/15
6-7853591-A-G BMP6 c.857+8026A>G - IntronicSNV - 2/6
8-59740890-T-C TOX c.925-1429A>G - IntronicSNV - 5/8
6-155762185-G-T NOX3 c.487-914C>A - IntronicSNV - 5/13
6-155762185-G-C NOX3 c.487-914C>G - IntronicSNV - 5/13
1-169569918-A-T SELP c.1705+2346T>A - IntronicSNV - 10/16
13-33594156-A-G KL c.819+2759A>G - IntronicSNV - 1/4
4-96024552-T-C BMPR1B c.1-1024T>C - IntronicSNV - 2/12
6-136501828-G-A PDE7B c.949-537G>A - IntronicSNV - 10/12
8-59846111-T-G TOX c.411+5750A>C - IntronicSNV - 3/8
4-95831420-T-C BMPR1B c.-113+34369T>C - intron_variant - 2/12
8-59740890-T-A TOX c.925-1429A>T - IntronicSNV - 5/8
1-173874059-G-A SERPINC1 c.1219-856C>T - IntronicSNV - 6/6
15-99251015-C-G IGF1R c.319C>G p.Arg107Gly Missense 2/21 -
13-28984400-C-A FLT1 c.1437-4369G>T - IntronicSNV - 10/29
6-136609350-C-T BCLAF1 c.-115+1501G>A - intron_variant - 1/12
4-55979558-C-T KDR c.889G>A p.Val297Ile Missense 7/30 -
13-29045852-A-C FLT1 c.65-4098T>G - IntronicSNV - 1/29
8-59939182-A-C TOX c.103-66615T>G - IntronicSNV - 1/8
15-99297665-T-C IGF1R c.640+46329T>C - IntronicSNV - 2/20
6-91255334-G-A MAP3K7 c.1211-983C>T - IntronicSNV - 11/16
8-59790903-T-C TOX c.412-26539A>G - IntronicSNV - 3/8
6-136215682-C-G PDE7B c.21+42525C>G - IntronicSNV - 1/12
12-117761540-A-G NOS1 c.725+6610T>C - IntronicSNV - 2/28
4-95939734-A-G BMPR1B c.-18+22449A>G - intron_variant - 3/12
2-60720951-A-G BCL11A c.386-24983T>C - IntronicSNV - 2/3
15-34571924-C-T SLC12A6 c.119-4334G>A - IntronicSNV - 1/24
6-136481391-A-G PDE7B c.711+4495A>G - IntronicSNV - 8/12
6-7866427-T-C BMP6 c.1204+3696T>C - IntronicSNV - 4/6
17-26105932-G-A NOS2 c.1155C>T p.Asp385Asp Synonymous 10/27 -
17-32583269-T-C CCL2 c.105T>C p.Cys35Cys Synonymous 2/3 -
12-52310843-A-T ACVRL1 c.1246+826A>T - IntronicSNV - 8/9
1-92271920-C-T TGFBR3 c.62-8892G>A - IntronicSNV - 2/16
6-136499528-C-T PDE7B c.804-607C>T - IntronicSNV - 9/12
4-96029055-C-T BMPR1B c.143+3337C>T - IntronicSNV - 4/12
6-7768852-G-C BMP6 c.664+41000G>C - IntronicSNV - 1/6
9-133346920-A-T ASS1 c.597+18A>T - IntronicSNV - 9/15
13-33596189-A-G KL c.819+4792A>G - IntronicSNV - 1/4
X-13803960-C-T GPM6B c.182-33G>A - IntronicSNV - 2/7
X-13803960-C-A GPM6B c.182-33G>T - IntronicSNV - 2/7
6-137184073-G-A PEX7 c.527-3692G>A - IntronicSNV - 5/9
4-96010909-T-C BMPR1B c.1-14667T>C - IntronicSNV - 3/12
8-59886312-T-A TOX c.103-13745A>T - IntronicSNV - 1/8
3-30707744-G-T TGFBR2 c.530-5386G>T - IntronicSNV - 4/7
3-30707744-G-C TGFBR2 c.530-5386G>C - IntronicSNV - 4/7
3-30707744-G-A TGFBR2 c.530-5386G>A - IntronicSNV - 4/7
12-117761540-A-T NOS1 c.725+6610T>A - IntronicSNV - 2/28
13-28984400-C-T FLT1 c.1437-4369G>A - IntronicSNV - 10/29
1-119918496-C-G HAO2 c.1-5213C>G - IntronicSNV - 1/8
13-33607319-G-T KL c.819+15922G>T - IntronicSNV - 1/4
13-33596189-A-T KL c.819+4792A>T - IntronicSNV - 1/4
4-55979558-C-A KDR c.889G>T p.Val297Leu Missense 7/30 -
13-33628193-G-T KL c.1109G>T p.Cys370Phe Missense 2/5 -
13-33628193-G-C KL c.1109G>C p.Cys370Ser Missense 2/5 -
13-28987061-A-G FLT1 c.1437-7030T>C - IntronicSNV - 10/29
12-117730340-G-A NOS1 c.853-2109C>T - IntronicSNV - 3/28
6-136689430-A-T MAP7 c.877-1853T>A - IntronicSNV - 8/17
6-136689430-A-G MAP7 c.877-1853T>C - IntronicSNV - 8/17
2-187478500-A-C ITGAV c.317-8566A>C - IntronicSNV - 2/29
2-187478500-A-G ITGAV c.317-8566A>G - IntronicSNV - 2/29
5-131411460-T-C CSF2 c.350T>C p.Ile117Thr Missense 4/4 -
12-117730340-G-T NOS1 c.853-2109C>A - IntronicSNV - 3/28
1-169580290-C-A SELP c.1147+440G>T - IntronicSNV - 7/16
1-169580290-C-T SELP c.1147+440G>A - IntronicSNV - 7/16
13-33594681-C-T KL c.819+3284C>T - IntronicSNV - 1/4
1-92162292-C-T TGFBR3 c.2330-956G>A - IntronicSNV - 15/16
7-116337649-G-A MET c.1-1490G>A - IntronicSNV - 1/20
16-4014141-G-C ADCY9 c.*1635C>G - 3-UTRSNV 11/11 -
16-4014141-G-A ADCY9 c.*1635C>T - 3-UTRSNV 11/11 -
16-4014141-G-T ADCY9 c.*1635C>A - 3-UTRSNV 11/11 -
8-59732049-T-A TOX c.1006-3766A>T - IntronicSNV - 6/8
8-59732049-T-C TOX c.1006-3766A>G - IntronicSNV - 6/8
8-59872177-A-G TOX c.168+325T>C - IntronicSNV - 2/8
13-28894206-A-G FLT1 c.3175-535T>C - IntronicSNV - 23/29
13-28958955-C-A FLT1 c.2116+67G>T - IntronicSNV - 14/29
8-59848830-G-C TOX c.411+3031C>G - IntronicSNV - 3/8
8-59848830-G-A TOX c.411+3031C>T - IntronicSNV - 3/8
2-203410351-G-C BMPR2 c.1413+3181G>C - IntronicSNV - 10/12
13-29063969-G-A FLT1 c.64+4948C>T - IntronicSNV - 1/29
6-7849335-T-A BMP6 c.857+3770T>A - IntronicSNV - 2/6
13-37482159-A-G SMAD9 c.-187+12094T>C - intron_variant - 1/5
13-31330316-T-C ALOX5AP c.323+154T>C - IntronicSNV - 4/4
6-136698697-C-A MAP7 c.751+196G>T - IntronicSNV - 7/17
6-136698697-C-T MAP7 c.751+196G>A - IntronicSNV - 7/17
13-31330316-T-A ALOX5AP c.323+154T>A - IntronicSNV - 4/4
13-31330316-T-G ALOX5AP c.323+154T>G - IntronicSNV - 4/4
6-136359446-A-G PDE7B c.83-70423A>G - IntronicSNV - 2/12
6-136359446-A-C PDE7B c.83-70423A>C - IntronicSNV - 2/12
8-59725501-A-C TOX c.1392+2396T>G - IntronicSNV - 7/8
1-101196787-G-C VCAM1 c.1238G>C p.Gly413Ala Missense 6/9 -
17-26109571-C-T NOS2 c.630+399G>A - IntronicSNV - 6/26
8-59761734-T-C TOX c.693+2349A>G - IntronicSNV - 4/8
13-33629241-G-C KL c.1388G>C p.Gly463Ala Missense 3/5 -
1-21588278-G-A ECE1 c.494-1393C>T - IntronicSNV - 4/18
8-59761734-T-A TOX c.693+2349A>T - IntronicSNV - 4/8
6-155742646-A-G NOX3 c.1308+1182T>C - IntronicSNV - 10/13
1-169580885-C-T SELP c.992G>A p.Ser331Asn Missense 7/17 -
16-4066061-G-T ADCY9 c.1694-8502C>A - IntronicSNV - 2/10
6-137102365-C-A MAP3K5 c.448+10483G>T - IntronicSNV - 1/29
1-207761441-G-A CR1 c.4360+531G>A - IntronicSNV - 26/38
13-28990428-T-C FLT1 c.1437-10397A>G - IntronicSNV - 10/29
7-150705610-T-C NOS3 c.2113-408T>C - IntronicSNV - 17/26
6-136887334-C-G MAP3K5 c.3761+1435G>C - IntronicSNV - 26/29
12-117729274-C-T NOS1 c.853-1043G>A - IntronicSNV - 3/28
16-4066061-G-C ADCY9 c.1694-8502C>G - IntronicSNV - 2/10