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: rs768949233
rs768949233
5 0.851 0.040 2 9490466 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 2018 2018