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: rs751755895
rs751755895
1 2 178741618 missense variant C/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs757082154
rs757082154
9 1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs764434631
rs764434631
1 2 178740904 missense variant C/A snv 4.0E-06 0.010 1.000 1 2017 2017