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: rs398124152
rs398124152
1 1.000 0.080 4 158706270 missense variant C/T snv 4.4E-05 5.6E-05 0.800 1.000 7 2003 2016
dbSNP: rs121964954
rs121964954
3 0.882 0.160 4 158682269 missense variant G/A snv 1.4E-04 3.5E-05 0.830 1.000 12 2003 2019
dbSNP: rs11559290
rs11559290
1 1.000 0.080 4 158680524 missense variant C/T snv 0.82 0.68 0.010 1.000 1 2019 2019