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: rs2904551
rs2904551
8 0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03 0.700 1.000 2 2002 2005
dbSNP: rs2238731
rs2238731
3 0.882 0.120 22 18918464 missense variant C/T snv 3.8E-02 0.700 0
dbSNP: rs2870983
rs2870983
3 0.882 0.120 22 18918329 missense variant C/T snv 4.9E-02; 4.0E-06 5.5E-02 0.700 0
dbSNP: rs2870984
rs2870984
2 0.925 0.080 22 18918346 missense variant G/A snv 4.6E-03 3.3E-03 0.700 0
dbSNP: rs3970555
rs3970555
1 1.000 22 18919485 missense variant G/A snv 1.9E-03 1.5E-03 0.700 0
dbSNP: rs3970559
rs3970559
4 0.851 0.120 22 18918386 missense variant G/A snv 1.1E-02 0.700 0
dbSNP: rs450046
rs450046
4 0.851 0.280 22 18913491 missense variant C/T snv 0.93 2.8E-03 0.700 0