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: rs753523115
rs753523115
2 0.925 0.160 16 56880142 missense variant G/A snv 2.5E-05 7.0E-06 0.010 1.000 1 2018 2018