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: rs137853298
rs137853298
3 0.925 0.080 22 32859351 missense variant A/T snv 0.840 1.000 8 1994 2003
dbSNP: rs137853300
rs137853300
2 1.000 0.040 22 32859277 missense variant C/G snv 0.810 1.000 6 1994 2010
dbSNP: rs137853299
rs137853299
1 1.000 0.040 22 32859313 missense variant A/G snv 0.810 1.000 5 1994 1997
dbSNP: rs137853301
rs137853301
1 1.000 0.040 22 32859306 missense variant G/T snv 0.810 1.000 5 1994 1997
dbSNP: rs137853302
rs137853302
1 1.000 0.040 22 32859225 stop gained G/T snv 0.700 0
dbSNP: rs1270675463
rs1270675463
1 1.000 0.040 22 32802114 missense variant C/G snv 7.0E-06 0.020 1.000 2 2016 2019