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: 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: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 12 1991 2013
dbSNP: rs953686324
rs953686324
CLCNKB
7 0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 0.700 0
dbSNP: rs164147
rs164147
NOS1AP
3 0.882 0.080 1 162368607 3 prime UTR variant A/C snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs1564865302
rs1564865302
KCNJ11
2 0.925 0.040 11 17387395 missense variant G/A snv 0.700 1.000 4 2011 2016
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: rs80356618
rs80356618
KCNJ11
8 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs80356616
rs80356616
KCNJ11
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1272388614
rs1272388614
ABCC8
5 0.851 0.080 11 17395658 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1446306735
rs1446306735
ABCC8
3 0.882 0.120 11 17395664 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs59852838
rs59852838
ABCC8
3 0.882 0.120 11 17453228 missense variant T/C snv 4.0E-05 4.9E-05 0.010 1.000 1 2008 2008
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: rs8066560
rs8066560
SREBF1
2 0.925 0.040 17 17824729 intron variant A/G snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs561017686
rs561017686
NEUROD1 ; CERKL
4 0.882 0.120 2 181678138 missense variant G/A;C snv 8.0E-06; 8.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs4402960
rs4402960
IGF2BP2
21 0.724 0.400 3 185793899 intron variant G/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs534828104
rs534828104
AHSG
2 0.925 0.080 3 186618566 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2006 2006
dbSNP: rs340874
rs340874
PROX1 ; PROX1-AS1
7 0.882 0.080 1 213985913 non coding transcript exon variant T/C snv 0.40 0.010 1.000 1 2014 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: rs1564911425
rs1564911425
INS ; INS-IGF2
2 0.925 0.080 11 2159895 missense variant G/C snv 0.700 1.000 5 2007 2015
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: 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: 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: rs1447680989
rs1447680989
GCKR
1 1.000 0.040 2 27501147 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.010 1.000 1 2008 2008