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: rs1131691608
rs1131691608
2 1.000 X 41346503 splice acceptor variant A/G snv 0.700 1.000 16 1989 2017
dbSNP: rs1555952710
rs1555952710
2 1.000 X 41341617 splice donor variant G/C snv 0.700 1.000 16 1989 2017