PMID: 20406164

The genetics of obesity and the metabolic syndrome.

Endocrine, metabolic & immune disorders drug targets
KL Monda, KE North, SC Hunt, DC Rao, MA Province, AT Kraja
2010-06

74 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
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
14-79945162-A-G NRXN3 c.429+11417A>G - IntronicSNV - 2/6
11-2857194-A-C KCNQ1 c.1795-11803A>C - IntronicSNV - 15/15
6-20661034-A-C CDKAL1 c.371+11426A>C - IntronicSNV - 5/15
11-61571478-T-C FADS1 c.1054-239A>G - IntronicSNV - 7/11
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
11-2849530-A-C KCNQ1 c.1795-19467A>C - IntronicSNV - 15/15
16-83114033-C-T CDH13 c.367-44957C>T - IntronicSNV - 3/13
10-114756041-A-T TCF7L2 c.382-43743A>T - IntronicSNV - 3/13
15-75077367-C-T CSK c.-66+2306C>T - intron_variant - 1/12
17-2216258-T-C SRR c.1-2597T>C - IntronicSNV - 1/7
10-18708798-A-T CACNB2 c.168+17826A>T - IntronicSNV - 2/12
8-118185733-A-G SLC30A8 c.*813A>G - 3-UTRSNV 8/8 -
15-75077367-C-A CSK c.-66+2306C>A - intron_variant - 1/12
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
6-20657865-A-G CDKAL1 c.371+8257A>G - IntronicSNV - 5/15
8-11045161-G-A XKR6 c.764+12924C>T - IntronicSNV - 1/2
8-11045161-G-T XKR6 c.764+12924C>A - IntronicSNV - 1/2
10-114756041-A-G TCF7L2 c.382-43743A>G - IntronicSNV - 3/13
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
3-170717521-T-A SLC2A2 c.1069-566A>T - IntronicSNV - 8/10
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
16-28883241-A-G SH2B1 c.1450A>G p.Thr484Ala Missense 5/9 -
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
16-28883241-A-T SH2B1 c.1450A>T p.Thr484Ser Missense 5/9 -
3-123065778-A-G ADCY5 c.1406+851T>C - IntronicSNV - 3/20
3-41912651-G-T ULK4 c.1656+12715C>A - IntronicSNV - 17/36
3-41912651-G-A ULK4 c.1656+12715C>T - IntronicSNV - 17/36
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
11-45873091-A-C CRY2 c.215+3835A>C - intron_variant - 1/11
11-2857194-A-T KCNQ1 c.1795-11803A>T - IntronicSNV - 15/15
3-185530290-T-C IGF2BP2 c.239+10651A>G - IntronicSNV - 2/15
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
6-50803050-A-G TFAP2B c.602-724A>G - IntronicSNV - 3/6
10-104594507-A-G CYP17A1 c.666+35T>C - IntronicSNV - 3/7
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
6-20703952-A-G CDKAL1 c.372-35798A>G - IntronicSNV - 5/15
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
16-82726747-G-A CDH13 c.45+66005G>A - IntronicSNV - 1/13
11-16902268-C-A PLEKHA7 c.222-9539G>T - IntronicSNV - 3/22
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
16-53825488-C-T FTO c.46-18564C>T - IntronicSNV - 1/8
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
11-47336320-A-T MADD c.3961-451A>T - IntronicSNV - 26/32
8-40484239-T-C ZMAT4 c.578-45459A>G - IntronicSNV - 5/6
10-104846178-T-C CNNM2 c.*9241T>C - IntergenicSNV 8/8 -
11-16902268-C-T PLEKHA7 c.222-9539G>A - IntronicSNV - 3/22
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
1-11862778-A-G MTHFR c.236+160T>C - IntronicSNV - 2/11
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
12-90008959-A-G ATP2B1 c.2067+1620T>C - IntronicSNV - 12/20
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
11-47663049-A-G MTCH2 c.87+882T>C - IntronicSNV - 1/12