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: rs121918653
rs121918653
1 1.000 0.040 12 88545774 missense variant T/C snv 0.800 1.000 1 2009 2009
dbSNP: rs730882157
rs730882157
1 1.000 0.040 12 88545781 missense variant T/G snv 0.710 1.000 1 2011 2011
dbSNP: rs730882156
rs730882156
1 1.000 0.040 12 88545783 missense variant A/G snv 0.700 0