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: rs13010627
rs13010627
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.020 1.000 2 2002 2006
dbSNP: rs80358239
rs80358239
2 0.925 0.160 2 201209363 missense variant A/C;T snv 4.5E-03 0.020 1.000 2 2016 2019
dbSNP: rs17860403
rs17860403
3 0.882 0.160 2 201208114 missense variant C/T snv 2.4E-05 2.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs17860405
rs17860405
1 1.000 0.120 2 201209484 missense variant A/G snv 3.0E-02 2.9E-02 0.010 1.000 1 2019 2019