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: rs755253307
rs755253307
2 0.925 0.120 12 48979482 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018