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: rs28940893
rs28940893
6 0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 0.710 1.000 1 1995 1995
dbSNP: rs74315457
rs74315457
6 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 0.700 0
dbSNP: rs74315485
rs74315485
2 0.925 0.120 22 50625396 missense variant G/A;T snv 0.700 0
dbSNP: rs80338815
rs80338815
3 0.882 0.120 22 50627165 splice donor variant C/T snv 6.5E-04 4.5E-04 0.700 0
dbSNP: rs80338820
rs80338820
2 0.925 0.120 22 50625578 splice donor variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0