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: rs397514702
rs397514702
2 1.000 0.080 12 48981179 missense variant T/G snv 4.9E-05 7.0E-06 0.740 1.000 6 2013 2019
dbSNP: rs387907359
rs387907359
2 1.000 0.080 12 48981230 missense variant C/T snv 0.700 0