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: rs759408749
rs759408749
2 0.925 0.040 13 95552897 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs80356469
rs80356469
2 0.925 0.080 2 166304279 missense variant A/G snv 0.010 1.000 1 2013 2013