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: rs142572218
rs142572218
2 0.925 0.080 9 133454548 missense variant C/A;T snv 8.3E-04 0.030 1.000 3 2008 2018