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: rs2269383
rs2269383
1 1.000 0.040 22 50574346 missense variant C/T snv 2.6E-02 3.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs3213445
rs3213445
4 0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs470117
rs470117
2 1.000 0.040 22 50571524 missense variant C/T snv 0.42 0.36 0.010 1.000 1 2013 2013