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: rs200711626
rs200711626
3 0.925 0.080 20 17465411 missense variant C/T snv 8.8E-05 3.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs2284912
rs2284912
2 1.000 0.040 20 17457568 intron variant T/C snv 1.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs6044695
rs6044695
2 1.000 0.040 20 17244293 intron variant A/T snv 0.41 0.010 1.000 1 2015 2015