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: rs556581174
rs556581174
GCK
2 0.925 0.080 7 44145637 stop gained G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs121909244
rs121909244
PPARG
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2010 2010
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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2006 2011
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2006 2011
dbSNP: rs2273773
rs2273773
SIRT1
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs3738435
rs3738435
CHRM3
2 0.925 0.080 1 239907303 intron variant T/C snv 0.23 0.010 < 0.001 1 2011 2011
dbSNP: rs397514580
rs397514580
GCK ; LOC105375258
2 0.925 0.080 7 44146467 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs755498926
rs755498926
GCK
1 1.000 0.040 7 44145228 missense variant T/C snv 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs775776658
rs775776658
ABCC8
1 1.000 0.040 11 17474926 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.0E-05 0.010 1.000 1 2011 2011
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: 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: rs193922331
rs193922331
GCK ; LOC105375258
4 0.882 0.080 7 44147726 missense variant A/G snv 7.0E-06 0.700 1.000 3 2002 2012
dbSNP: rs13412852
rs13412852
LPIN1
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 < 0.001 1 2012 2012
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: rs267607555
rs267607555
LMNA
6 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.700 1.000 5 1990 2013
dbSNP: rs1057524908
rs1057524908
HNF1A
2 0.925 0.080 12 120993686 frameshift variant -/C delins 0.700 1.000 4 2000 2013
dbSNP: rs1392795567
rs1392795567
HNF4A
2 0.925 0.080 20 44414663 splice donor variant G/A snv 0.700 1.000 4 1977 2013
dbSNP: rs1568724014
rs1568724014
HNF4A ; MIR3646
2 0.925 0.080 20 44407421 stop gained C/T snv 0.700 1.000 4 2000 2013
dbSNP: rs1565886545
rs1565886545
HNF1A
2 0.925 0.080 12 120996261 splice acceptor variant G/A;C snv 0.700 1.000 3 2009 2013
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: rs1385251852
rs1385251852
HNF4A ; MIR3646
2 0.925 0.080 20 44406208 frameshift variant G/- delins 0.700 1.000 1 2013 2013
dbSNP: rs193922262
rs193922262
GCK
2 0.925 0.080 7 44145636 stop gained C/A;G snv 4.3E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs193922287
rs193922287
GCK
2 0.925 0.080 7 44153334 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013