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: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.100 1.000 13 2009 2018
dbSNP: rs121913452
rs121913452
4 0.851 0.080 9 130873027 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913461
rs121913461
5 0.851 0.120 9 130862970 missense variant T/C snv 0.010 1.000 1 2015 2015