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: rs10010131
rs10010131
WFS1
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2008 2008
dbSNP: rs10139403
rs10139403
DLK1
1 1.000 0.040 14 100728224 intron variant A/G snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs1018185646
rs1018185646
HNF4A
1 1.000 0.040 20 44428455 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs104894006
rs104894006
GCK ; LOC105375258
2 0.925 0.040 7 44149992 stop gained G/A;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs10515074
rs10515074
PIK3R1
2 0.925 0.120 5 68270365 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057524900
rs1057524900
GCK
2 0.925 0.080 7 44145173 missense variant G/A;T snv 4.2E-06 0.700 1.000 5 2003 2012
dbSNP: rs1057524901
rs1057524901
GCK
2 0.925 0.080 7 44145190 frameshift variant G/- del 0.700 1.000 3 2003 2009
dbSNP: rs1057524902
rs1057524902
GCK
3 0.882 0.080 7 44145495 splice donor variant A/T snv 0.700 1.000 3 2003 2009
dbSNP: rs1057524903
rs1057524903
GCK ; LOC105375258
2 0.925 0.080 7 44146466 missense variant T/C snv 0.700 1.000 3 2006 2011
dbSNP: rs1057524904
rs1057524904
GCK ; LOC105375258
3 0.882 0.080 7 44147765 missense variant G/A snv 0.700 1.000 3 2007 2009
dbSNP: rs1057524905
rs1057524905
GCK ; LOC105375258
3 0.882 0.080 7 44147834 splice acceptor variant C/T snv 0.700 1.000 4 2003 2009
dbSNP: rs1057524906
rs1057524906
GCK
2 0.925 0.080 7 44153387 missense variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs1057524907
rs1057524907
INS ; INS-IGF2
2 0.925 0.080 11 2159907 missense variant T/C snv 0.700 1.000 5 2007 2015
dbSNP: rs1057524908
rs1057524908
HNF1A
2 0.925 0.080 12 120993686 frameshift variant -/C delins 0.700 1.000 4 2000 2013
dbSNP: rs1064793998
rs1064793998
GCK
3 0.882 0.080 7 44153325 missense variant C/T snv 0.720 1.000 8 1998 2016
dbSNP: rs1064794268
rs1064794268
GCK
2 0.925 0.080 7 44153396 missense variant T/G snv 0.700 1.000 3 2000 2014
dbSNP: rs10770125
rs10770125
IGF2 ; IGF2-AS ; INS-IGF2
4 0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40 0.010 1.000 1 2017 2017
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
2 0.925 0.080 7 44149977 missense variant G/A;T snv 8.0E-06 0.700 1.000 12 2000 2012
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
5 0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2019 2019
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 12 1991 2013
dbSNP: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019