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: rs11555293
rs11555293
1 1.000 0.080 4 57110126 missense variant C/T snv 1.4E-05 0.010 1.000 1 2019 2019