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: rs143517122
rs143517122
2 1.000 0.040 13 27924267 missense variant G/A;T snv 2.1E-04; 4.2E-06 0.010 1.000 1 2000 2000