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: rs869025313
rs869025313
1 1.000 3 66263369 missense variant T/G snv 0.800 1.000 1 2015 2015
dbSNP: rs869025314
rs869025314
1 1.000 3 66262055 missense variant C/T snv 7.0E-06 0.800 1.000 1 2015 2015
dbSNP: rs869025315
rs869025315
1 1.000 3 66369505 missense variant C/T snv 0.800 1.000 1 2015 2015
dbSNP: rs781798317
rs781798317
1 1.000 3 66221128 splice donor variant G/A snv 7.6E-06 7.0E-06 0.700 0