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: rs58000832
rs58000832
1 1.000 0.040 10 35228708 intron variant AA/-;A;AAA;AAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2014 2014