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: rs12861247
rs12861247
STS
2 1.000 0.040 X 7256158 intron variant G/A snv 7.1E-02 0.020 1.000 2 2008 2011
dbSNP: rs17268988
rs17268988
STS
2 1.000 0.040 X 7336440 intron variant C/G snv 0.22 0.020 1.000 2 2011 2017
dbSNP: rs2270112
rs2270112
STS
1 1.000 0.040 X 7252884 intron variant C/G;T snv 0.010 1.000 1 2017 2017