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: rs12991836
rs12991836
2 1.000 0.040 2 144383974 intron variant A/C;T snv 0.810 1.000 5 2013 2019