PMID: 23028568

Connection between genetic and clinical data in bipolar disorder.

PloS one
E Mellerup, O Andreassen, B Bennike, H Dam, S Djurovic, S Durovic, T Hansen, I Melle, GL Møller, O Mors, P Koefoed
2012

229 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
10-61938252-C-T ANK3 c.2184+2835G>A - IntronicSNV - 18/43
10-61938252-C-A ANK3 c.2184+2835G>T - IntronicSNV - 18/43
1-154681950-A-G KCNN3 c.1900-1202T>C - IntronicSNV - 7/7
7-146624180-T-A CNTNAP2 c.402+87184T>A - IntronicSNV - 3/23
10-61940899-A-G ANK3 c.2184+188T>C - IntronicSNV - 18/43
8-32474622-A-G NRG1 c.388+2540A>G - IntronicSNV - 4/11
7-147597251-T-C CNTNAP2 c.2099-3406T>C - IntronicSNV - 13/23
15-34554911-G-A SLC12A6 c.164-1690C>T - IntronicSNV - 2/24
12-75437930-C-T KCNC2 c.1616-1776G>A - IntronicSNV - 3/4
8-133184914-G-A KCNQ3 c.1071C>T p.Leu357Leu Synonymous 7/15 -
8-133184914-G-C KCNQ3 c.1071C>G p.Leu357Leu Synonymous 7/15 -
10-61793446-T-C ANK3 c.*20-3862A>G - intron_variant - 43/43
2-208435555-T-C CREB1 c.547+510T>C - IntronicSNV - 6/8
10-61802550-A-T ANK3 c.13066-33T>A - IntronicSNV - 42/43
1-154793798-G-A KCNN3 c.1029+767C>T - IntronicSNV - 2/7
1-175335234-C-T TNR c.2094G>A p.Ser698Ser Synonymous 11/23 -
10-61820631-T-C ANK3 c.12596-1443A>G - IntronicSNV - 40/43
12-41359761-C-A CNTN1 c.1804+6725C>A - IntronicSNV - 15/23
1-111148080-C-A KCNA2 c.-231G>T - 5_prime_UTR_variant 2/3 -
12-121677314-G-C CAMKK2 c.*1286C>G - 3-UTRSNV 16/16 -
12-41443634-A-C CNTN1 c.2981-20127A>C - IntronicSNV - 23/23
1-205046894-T-C CNTN2 c.*4001T>C - 3-UTRSNV 23/23 -
18-24435818-C-T AQP4 c.*357G>A - 3-UTRSNV 5/5 -
12-75493882-T-C KCNC2 c.688-48785A>G - IntronicSNV - 2/4
7-107998949-A-C NRCAM c.-174+40931T>G - intron_variant - 2/32
7-107998949-A-T NRCAM c.-174+40931T>A - intron_variant - 2/32
15-34528948-G-A SLC12A6 c.2850C>T p.Leu950Leu Synonymous 22/25 -
12-121677314-G-T CAMKK2 c.*1286C>A - 3-UTRSNV 16/16 -
4-6351958-G-A PPP2R2C c.626-2221C>T - IntronicSNV - 5/8
1-204849919-C-T NFASC c.-199-39841C>T - intron_variant - 1/29
12-75566990-T-G KCNC2 c.687+34087A>C - IntronicSNV - 2/4
10-61854744-G-T ANK3 c.3329-6628C>A - IntronicSNV - 28/43
11-113065319-T-C NCAM1 c.53-7782T>C - intron_variant - 2/19
10-61870669-G-A ANK3 c.2949-1857C>T - IntronicSNV - 26/43
11-113103995-T-G NCAM1 c.1620T>G p.Ser540Arg Missense 13/20 -
21-45821529-T-G TRPM2 c.2322-35T>G - IntronicSNV - 15/31
19-41067283-T-G SPTBN4 c.5915+974T>G - IntronicSNV - 27/35
1-175322140-G-C TNR c.3382+1387C>G - IntronicSNV - 18/22
1-175322140-G-T TNR c.3382+1387C>A - IntronicSNV - 18/22
4-6342213-C-T PPP2R2C c.791-6755G>A - IntronicSNV - 6/8
2-208450788-C-T CREB1 c.881+8409C>T - IntronicSNV - 8/8
22-36970287-T-A CACNG2 c.296-7747A>T - IntronicSNV - 2/3
11-118037564-G-A SCN2B c.*38C>T - 3-UTRSNV 4/4 -
12-75529751-A-C KCNC2 c.687+71326T>G - IntronicSNV - 2/4
8-133208405-C-A KCNQ3 c.387-9977G>T - IntronicSNV - 1/14
1-154714762-C-T KCNN3 c.1449-9142G>A - IntronicSNV - 3/7
8-32410110-G-A NRG1 c.38-43236G>A - IntronicSNV - 1/11
2-208450788-C-G CREB1 c.881+8409C>G - IntronicSNV - 8/8
18-11992546-C-G IMPA2 c.97-6507C>G - IntronicSNV - 1/7
11-113116371-C-T NCAM1 c.1796-719C>T - intron_variant - 14/19
2-166199284-T-A SCN2A c.2562+305T>A - IntronicSNV - 15/26
8-133482177-C-T KCNQ3 c.386+10217G>A - IntronicSNV - 1/14
12-41125582-A-T CNTN1 c.-77+39188A>T - intron_variant - 1/23
1-175378694-A-C TNR c.1-2844T>G - IntronicSNV - 2/22
8-133208405-C-T KCNQ3 c.387-9977G>A - IntronicSNV - 1/14
10-62006261-T-C ANK3 c.799-11717A>G - IntronicSNV - 7/43
11-17770833-T-A KCNC1 c.570+12714T>A - IntronicSNV - 1/1
4-6323454-A-C PPP2R2C c.*1575T>G - 3-UTRSNV 9/9 -
19-50822408-T-A KCNC3 c.*1095A>T - IntronicSNV - 4/4
8-133208405-C-G KCNQ3 c.387-9977G>C - IntronicSNV - 1/14
11-113118856-C-T NCAM1 c.1798+1764C>T - intron_variant - 15/19
12-121688972-C-G CAMKK2 c.1162-1135G>C - IntronicSNV - 11/15
19-50822408-T-G KCNC3 c.*1095A>C - IntronicSNV - 4/4
12-75437930-C-G KCNC2 c.1616-1776G>C - IntronicSNV - 3/4
4-6375269-A-G PPP2R2C c.448-842T>C - IntronicSNV - 4/8
19-41006426-G-A SPTBN4 c.785-1402G>A - IntronicSNV - 7/35
11-17774473-A-G KCNC1 c.570+16354A>G - IntronicSNV - 1/1
19-35799200-T-C MAG c.1232-1577T>C - IntronicSNV - 7/11
12-121605355-G-A P2RX7 c.809G>A p.Arg270His Missense 8/13 -
7-147137877-G-T CNTNAP2 c.1670+45005G>T - IntronicSNV - 10/23
7-147137877-G-A CNTNAP2 c.1670+45005G>A - IntronicSNV - 10/23
7-147137877-G-C CNTNAP2 c.1670+45005G>C - IntronicSNV - 10/23
1-154823021-C-T KCNN3 c.933+18487G>A - IntronicSNV - 1/7
12-121681687-T-C CAMKK2 c.1553+1256A>G - IntronicSNV - 15/15
22-37013694-A-C CACNG2 c.212-30099T>G - IntronicSNV - 1/3
2-210582816-T-C MAP2 c.1177-5503T>C - IntronicSNV - 11/14
18-74720957-G-A MBP c.255+848C>T - IntronicSNV - 2/6
12-5021228-T-C KCNA1 c.684T>C p.Cys228Cys Synonymous 2/2 -
15-34529277-T-C SLC12A6 c.2782-261A>G - IntronicSNV - 21/24
12-121605355-G-C P2RX7 c.809G>C p.Arg270Pro Missense 8/13 -
7-147039963-G-T CNTNAP2 c.1498+42581G>T - IntronicSNV - 9/23
7-146365436-G-C CNTNAP2 c.98-105927G>C - IntronicSNV - 1/23
19-35523119-T-A SCN1B c.41-313T>A - IntronicSNV - 1/5
7-147017835-G-C CNTNAP2 c.1498+20453G>C - IntronicSNV - 9/23
7-147488630-G-A CNTNAP2 c.2099-112027G>A - IntronicSNV - 13/23
8-133150103-C-T KCNQ3 c.1700+29G>A - IntronicSNV - 12/14
10-62143348-C-T ANK3 c.114+5835G>A - IntronicSNV - 1/43
7-147870422-C-T CNTNAP2 c.3010+852C>T - IntronicSNV - 18/23
1-66276985-T-C PDE4B c.-71+18054T>C - intron_variant - 1/16
7-146715861-C-A CNTNAP2 c.403-25138C>A - IntronicSNV - 3/23
7-146715861-C-T CNTNAP2 c.403-25138C>T - IntronicSNV - 3/23
2-166162705-G-T SCN2A c.387-1653G>T - IntronicSNV - 3/26
18-11992546-C-A IMPA2 c.97-6507C>A - IntronicSNV - 1/7
1-204890731-A-G NFASC c.-91+863A>G - intron_variant - 2/29
11-113056711-G-A NCAM1 c.53-16390G>A - intron_variant - 2/19
2-210508524-G-A MAP2 c.1-9371G>A - IntronicSNV - 4/14
1-204974508-C-T NFASC c.3289+2632C>T - IntronicSNV - 27/29
7-147267608-A-G CNTNAP2 c.1897+8259A>G - IntronicSNV - 12/23
1-204865284-A-C NFASC c.-199-24476A>C - intron_variant - 1/29
10-62136279-C-A ANK3 c.114+12904G>T - IntronicSNV - 1/43
1-206231151-C-G AVPR1B c.*9C>G - 3-UTRSNV 2/2 -
18-74702864-G-A MBP c.256-848C>T - IntronicSNV - 2/6
8-133227626-A-C KCNQ3 c.387-29198T>G - IntronicSNV - 1/14
8-32453358-G-A NRG1 c.50G>A p.Arg17Gln Missense 2/12 -
12-121597413-G-A P2RX7 c.364-1292G>A - IntronicSNV - 3/12
10-62015782-G-A ANK3 c.798+5835C>T - IntronicSNV - 7/43
20-62092342-G-A KCNQ2 c.296+11179C>T - IntronicSNV - 1/7
18-12013384-T-C IMPA2 c.382-880T>C - IntronicSNV - 4/7
19-50827785-G-A KCNC3 c.871-446C>T - IntronicSNV - 1/4
22-37091631-T-C CACNG2 c.211+6780A>G - IntronicSNV - 1/3
19-41038574-G-A SPTBN4 c.3991G>A p.Gly1331Ser Missense 19/36 -
1-205044339-A-G CNTN2 c.*1446A>G - 3-UTRSNV 23/23 -
19-40982375-A-G SPTBN4 c.169+3678A>G - IntronicSNV - 2/35
7-147712309-A-T CNTNAP2 c.2383+37228A>T - IntronicSNV - 15/23
1-154834911-G-A KCNN3 c.933+6597C>T - IntronicSNV - 1/7
21-45811343-T-G TRPM2 c.1629T>G p.Asp543Glu Missense 11/32 -
21-45811343-T-C TRPM2 c.1629T>C p.Asp543Asp Synonymous 11/32 -
7-107834613-G-C NRCAM c.1633C>G p.Pro545Ala Missense 17/33 -
11-17764913-C-T KCNC1 c.570+6794C>T - IntronicSNV - 1/1
18-12013384-T-A IMPA2 c.382-880T>A - IntronicSNV - 4/7
1-154794897-G-A KCNN3 c.934-237C>T - IntronicSNV - 1/7
7-147712309-A-G CNTNAP2 c.2383+37228A>G - IntronicSNV - 15/23
9-117840922-A-G TNC c.2405-431T>C - IntronicSNV - 6/27
10-61870135-G-C ANK3 c.2949-1323C>G - IntronicSNV - 26/43
15-34542606-T-C SLC12A6 c.1439-50A>G - IntronicSNV - 11/24
21-34399401-A-G OLIG2 c.231A>G p.Ser77Ser Synonymous 2/2 -
2-166166456-C-T SCN2A c.698-377C>T - IntronicSNV - 6/26
18-11996337-G-A IMPA2 c.97-2716G>A - IntronicSNV - 1/7
18-74725166-C-T MBP c.178-3284G>A - IntronicSNV - 1/6
2-166196681-T-A SCN2A c.2389-2125T>A - IntronicSNV - 14/26
2-166162705-G-A SCN2A c.387-1653G>A - IntronicSNV - 3/26
10-61876681-A-G ANK3 c.2842-2592T>C - IntronicSNV - 25/43
3-38622467-T-G SCN5A c.3183A>C p.Glu1061Asp Missense 17/28 -
3-38622467-T-C SCN5A c.3183A>G p.Glu1061Glu Synonymous 17/28 -
10-61959027-C-T ANK3 c.1492-732G>A - IntronicSNV - 13/43
10-62034497-T-C ANK3 c.414+4035A>G - IntronicSNV - 4/43
1-154741579-A-C KCNN3 c.1448+2872T>G - IntronicSNV - 3/7
7-146680329-A-C CNTNAP2 c.403-60670A>C - IntronicSNV - 3/23
1-204897572-G-C NFASC c.-91+7704G>C - intron_variant - 2/29
12-75563380-A-G KCNC2 c.687+37697T>C - IntronicSNV - 2/4
12-121605074-G-A P2RX7 c.745-217G>A - IntronicSNV - 7/12
18-24445433-T-C AQP4 c.32+189A>G - IntronicSNV - 1/4
22-37081695-T-C CACNG2 c.211+16716A>G - IntronicSNV - 1/3
1-175355391-A-G TNR c.1554T>C p.Thr518Thr Synonymous 8/23 -
4-6325086-G-A PPP2R2C c.1287C>T p.Ile429Ile Synonymous 9/9 -
7-107834613-G-A NRCAM c.1633C>T p.Pro545Ser Missense 17/33 -
1-205037354-G-A CNTN2 c.2125+976G>A - IntronicSNV - 16/22
7-146680329-A-T CNTNAP2 c.403-60670A>T - IntronicSNV - 3/23
1-154703725-G-A KCNN3 c.1590+1754C>T - IntronicSNV - 4/7
1-154703725-G-C KCNN3 c.1590+1754C>G - IntronicSNV - 4/7
17-40835922-A-C CNTNAP1 c.151A>C p.Arg51Arg Synonymous 2/24 -
10-61802242-C-T ANK3 c.*207G>A - IntronicSNV - 43/43
1-154693513-A-G KCNN3 c.1701+4879T>C - IntronicSNV - 5/7
18-74710638-A-C MBP c.256-8622T>G - IntronicSNV - 2/6
10-62085337-T-C ANK3 c.115-45940A>G - IntronicSNV - 1/43
10-61863259-C-G ANK3 c.3328+2404G>C - IntronicSNV - 28/43
10-61863259-C-T ANK3 c.3328+2404G>A - IntronicSNV - 28/43
18-74710638-A-G MBP c.256-8622T>C - IntronicSNV - 2/6
18-74715925-A-G MBP c.255+5880T>C - IntronicSNV - 2/6
20-62099296-C-T KCNQ2 c.296+4225G>A - IntronicSNV - 1/7
17-7118322-A-G DLG4 c.159+3238T>C - IntronicSNV - 3/21
2-166183577-C-G SCN2A c.2149+83C>G - IntronicSNV - 13/26
7-107932781-C-T NRCAM c.-107+20328G>A - intron_variant - 3/32
10-61820631-T-A ANK3 c.12596-1443A>T - IntronicSNV - 40/43
11-118021740-C-G SCN4B c.61+1588G>C - IntronicSNV - 1/2
12-41131755-G-A CNTN1 c.-77+45361G>A - intron_variant - 1/23
22-32339213-T-C C22orf24 c.-50+2006A>G - intron_variant - 1/2
10-61870135-G-A ANK3 c.2949-1323C>T - IntronicSNV - 26/43
15-34542606-T-A SLC12A6 c.1439-50A>T - IntronicSNV - 11/24
21-45821529-T-C TRPM2 c.2322-35T>C - IntronicSNV - 15/31
12-75483972-A-G KCNC2 c.688-38875T>C - IntronicSNV - 2/4
7-148071183-G-A CNTNAP2 c.3476-9558G>A - IntronicSNV - 21/23
1-175335962-C-T TNR c.2053+382G>A - IntronicSNV - 10/22
8-133439033-T-C KCNQ3 c.386+53361A>G - IntronicSNV - 1/14
7-146365436-G-T CNTNAP2 c.98-105927G>T - IntronicSNV - 1/23
19-42489516-A-T ATP1A3 c.666T>A p.Thr222Thr Synonymous 7/23 -
10-61964409-C-T ANK3 c.1293+1141G>A - IntronicSNV - 11/43
7-146981896-T-G CNTNAP2 c.1349-15337T>G - IntronicSNV - 8/23
10-61939519-A-G ANK3 c.2184+1568T>C - IntronicSNV - 18/43
10-61814052-T-C ANK3 c.13065+1364A>G - IntronicSNV - 42/43
1-175335962-C-G TNR c.2053+382G>C - IntronicSNV - 10/22
22-37096794-T-A CACNG2 c.211+1617A>T - IntronicSNV - 1/3
17-7095090-C-G DLG4 c.2105+122G>C - IntronicSNV - 20/21
17-7095090-C-A DLG4 c.2105+122G>T - IntronicSNV - 20/21
2-208426257-G-A CREB1 c.303+373G>A - IntronicSNV - 4/8
22-36989327-T-G CACNG2 c.212-5732A>C - IntronicSNV - 1/3
18-11983073-G-A IMPA2 c.96+1309G>A - IntronicSNV - 1/7
12-121607891-G-A P2RX7 c.881+2464G>A - IntronicSNV - 8/12
22-37025274-A-C CACNG2 c.212-41679T>G - IntronicSNV - 1/3
1-204965754-T-C NFASC c.2783-544T>C - IntronicSNV - 24/29
11-118005119-T-C SCN4B c.*2623A>G - 3-UTRSNV 3/3 -
11-118005119-T-A SCN4B c.*2623A>T - 3-UTRSNV 3/3 -
1-204951540-A-G NFASC c.2470+392A>G - IntronicSNV - 21/29
18-11983565-C-T IMPA2 c.96+1801C>T - IntronicSNV - 1/7
17-40835922-A-G CNTNAP1 c.151A>G p.Arg51Gly Missense 2/24 -
19-41067283-T-A SPTBN4 c.5915+974T>A - IntronicSNV - 27/35
7-107809412-T-C NRCAM c.3188-565A>G - IntronicSNV - 28/32
2-166183577-C-T SCN2A c.2149+83C>T - IntronicSNV - 13/26
15-94956545-T-A MCTP2 c.2085+11297T>A - IntronicSNV - 16/21
1-154718778-G-A KCNN3 c.1449-13158C>T - IntronicSNV - 3/7
22-37096794-T-C CACNG2 c.211+1617A>G - IntronicSNV - 1/3
10-61814417-T-A ANK3 c.13065+999A>T - IntronicSNV - 42/43
10-61814417-T-C ANK3 c.13065+999A>G - IntronicSNV - 42/43
1-154688197-C-T KCNN3 c.1702-718G>A - IntronicSNV - 5/7
12-121686108-G-A CAMKK2 c.1452+301C>T - IntronicSNV - 14/15
10-62133503-C-T ANK3 c.114+15680G>A - IntronicSNV - 1/43
8-32412963-T-A NRG1 c.38-40383T>A - IntronicSNV - 1/11
8-32605365-G-A NRG1 c.578-1714G>A - IntronicSNV - 6/11
19-50820795-C-T KCNC3 c.*24-1447G>A - intron_variant - 4/4
22-37091631-T-A CACNG2 c.211+6780A>T - IntronicSNV - 1/3
10-62136279-C-T ANK3 c.114+12904G>A - IntronicSNV - 1/43
17-40846914-C-T CNTNAP1 c.2993-625C>T - IntronicSNV - 18/23
8-32512823-G-A NRG1 c.388+40741G>A - IntronicSNV - 4/11
15-34575748-A-G SLC12A6 c.119-8158T>C - IntronicSNV - 1/24
1-154811573-C-T KCNN3 c.934-16913G>A - IntronicSNV - 1/7
22-36970287-T-C CACNG2 c.296-7747A>G - IntronicSNV - 2/3
1-66760560-A-G PDE4B c.634+28790A>G - IntronicSNV - 7/16
1-66760560-A-T PDE4B c.634+28790A>T - IntronicSNV - 7/16
18-11989379-A-C IMPA2 c.96+7615A>C - IntronicSNV - 1/7
2-166234979-T-C SCN2A c.4308+819T>C - IntronicSNV - 23/26
8-32605365-G-T NRG1 c.578-1714G>T - IntronicSNV - 6/11
19-42489516-A-C ATP1A3 c.666T>G p.Thr222Thr Synonymous 7/23 -
1-206231151-C-T AVPR1B c.*9C>T - 3-UTRSNV 2/2 -
8-32410110-G-T NRG1 c.38-43236G>T - IntronicSNV - 1/11
2-210465558-G-A MAP2 c.-107+20734G>A - intron_variant - 3/14
1-154758422-C-T KCNN3 c.1030-13553G>A - IntronicSNV - 2/7
12-121681536-C-T CAMKK2 c.1553+1407G>A - IntronicSNV - 15/15
18-74694985-T-C MBP c.549+1746A>G - IntronicSNV - 6/6
10-62010523-A-G ANK3 c.798+11094T>C - IntronicSNV - 7/43