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: rs12188950
rs12188950
2 0.925 0.120 5 60487490 intron variant C/T snv 0.13 0.030 1.000 3 2008 2017