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: rs386352319
rs386352319
KCNJ5
8 0.827 0.080 11 128911724 missense variant G/A;C snv 0.050 1.000 5 2012 2017
dbSNP: rs386352318
rs386352318
KCNJ5
4 0.925 0.080 11 128911776 missense variant T/G snv 0.030 1.000 3 2012 2017
dbSNP: rs387906778
rs387906778
KCNJ5
5 0.827 0.200 11 128911745 missense variant A/G snv 0.030 1.000 3 2012 2016
dbSNP: rs370574590
rs370574590
PCSK9
2 1.000 0.080 1 55058628 missense variant G/A;T snv 3.2E-05; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs746967306
rs746967306
CACNA1H
2 0.925 0.080 16 1218616 missense variant T/A snv 1.0E-04 5.1E-05 0.010 1.000 1 2016 2016