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: rs121918552
rs121918552
2 1.000 0.040 7 25123996 missense variant C/T snv 0.810 1.000 2 2008 2014
dbSNP: rs1562515878
rs1562515878
1 1.000 0.040 7 25123716 inframe deletion TTT/- delins 0.700 0
dbSNP: rs886037737
rs886037737
1 1.000 0.040 7 25123975 missense variant A/G snv 0.700 0