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: rs122445105
rs122445105
3 0.882 0.240 X 77684520 missense variant G/A snv 0.700 0
dbSNP: rs122445107
rs122445107
1 1.000 0.080 X 77697589 stop gained G/C snv 0.700 0
dbSNP: rs587776756
rs587776756
1 1.000 0.080 X 77785981 splice donor variant C/T snv 0.700 0