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: rs1553877864
rs1553877864
1 3 193643430 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs387906899
rs387906899
2 1.000 3 193643609 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs398124298
rs398124298
3 0.925 0.160 3 193647110 missense variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs80356529
rs80356529
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs80356530
rs80356530
4 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs143319805
rs143319805
12 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.020 1.000 2 2017 2020