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: rs11057401
rs11057401
2 0.925 0.040 12 123942759 missense variant T/A snv 0.27 0.30 0.010 1.000 1 2018 2018