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: rs121918304
rs121918304
4 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs41311141
rs41311141
1 22 32484019 synonymous variant A/G;T snv 3.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs762999184
rs762999184
2 1.000 0.080 22 32478989 missense variant C/A;T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015