Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064797245
rs1064797245
1.000 19 41970540 missense variant G/A snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 27 1988 2017
dbSNP: rs200891944
rs200891944
19 41981976 missense variant C/A snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 27 1988 2017
dbSNP: rs606231435
rs606231435
0.923 0.036 19 41970539 missense variant C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 27 1988 2017
dbSNP: rs797044897
rs797044897
19 41984940 missense variant T/C snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 27 1988 2017
dbSNP: rs80356537
rs80356537
0.821 0.250 19 41970405 missense variant C/A,G,T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 27 1988 2017