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: rs1057519430
rs1057519430
5 0.925 X 41346946 missense variant C/T snv 0.700 1.000 16 1989 2017
dbSNP: rs1555950665
rs1555950665
4 1.000 X 41334255 start lost G/C snv 0.700 1.000 16 1989 2017
dbSNP: rs1555953882
rs1555953882
2 1.000 X 41345507 frameshift variant GACA/- delins 0.700 1.000 16 1989 2017