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: rs11666497
rs11666497
2 19 37973622 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs201178535
rs201178535
2 1.000 0.040 19 38101163 missense variant C/T snv 4.5E-05 5.6E-05 0.700 1.000 1 2018 2018