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: rs786205147
rs786205147
4 0.882 0.120 1 161340638 missense variant G/A;T snv 0.700 0
dbSNP: rs201286421
rs201286421
5 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs764575966
rs764575966
8 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs776485432
rs776485432
2 0.925 0.040 1 161356764 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs942160050
rs942160050
3 0.882 0.080 1 161356685 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015