Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1251901596
rs1251901596
ZNF236 ; LOC105372214
1 1.000 0.080 18 76849634 missense variant A/G snv 4.1E-06 0.010 1.000 1 1996 1996
dbSNP: rs1799904
rs1799904
PCSK1 ; LOC101929710
2 1.000 0.080 5 96429259 missense variant C/A;T snv 4.0E-06; 2.1E-03 0.010 1.000 1 1996 1996
dbSNP: rs1801118
rs1801118
IRS1
1 1.000 0.080 2 226798113 missense variant A/G snv 5.6E-05 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs1801120
rs1801120
IRS1
1 1.000 0.080 2 226796313 missense variant G/A snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs6234
rs6234
PCSK1 ; LOC101929710
8 0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24 0.010 1.000 1 1996 1996
dbSNP: rs756025720
rs756025720
INSR
1 1.000 0.080 19 7142929 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs778869893
rs778869893
ZNF236
1 1.000 0.080 18 76904406 missense variant C/G snv 1.6E-05 0.010 1.000 1 1996 1996
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.900 0.902 122 1997 2018
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.893 103 1997 2018
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.100 0.762 21 1997 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.933 15 1997 2017
dbSNP: rs757110
rs757110
ABCC8
6 0.851 0.080 11 17396930 missense variant C/A;T snv 0.64; 8.0E-06 0.790 0.900 10 1997 2018
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.070 0.857 7 1997 2010
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.040 0.750 4 1997 2017
dbSNP: rs5447
rs5447
GYS1
1 1.000 0.080 19 48977986 missense variant T/C snv 1.9E-02 1.4E-02 0.040 0.500 4 1997 2003
dbSNP: rs137853238
rs137853238
HNF1A
6 0.807 0.200 12 120994265 missense variant G/A snv 0.010 1.000 1 1997 1997
dbSNP: rs142951866
rs142951866
GYS1
1 1.000 0.080 19 48974718 missense variant G/A;C;T snv 4.0E-05; 3.3E-04; 6.8E-05 0.010 1.000 1 1997 1997
dbSNP: rs200998100
rs200998100
GYS1
1 1.000 0.080 19 48991389 missense variant C/G snv 1.7E-04 2.0E-04 0.010 1.000 1 1997 1997
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.900 0.906 64 1998 2019
dbSNP: rs660339
rs660339
UCP2
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.100 0.700 10 1998 2018
dbSNP: rs2464196
rs2464196
HNF1A
17 0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27 0.050 1.000 5 1998 2016
dbSNP: rs1799999
rs1799999
PPP1R3A
4 0.882 0.160 7 113878379 missense variant C/A snv 0.22 0.17 0.040 0.500 4 1998 2018
dbSNP: rs1316999782
rs1316999782
HNF1A ; C12orf43
1 1.000 0.080 12 121001151 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs137853337
rs137853337
HNF4A
1 1.000 0.080 20 44428409 missense variant G/A snv 8.0E-06; 8.0E-06 7.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs1800561
rs1800561
CD38
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.010 1.000 1 1998 1998