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: rs144722432
rs144722432
1 1.000 0.080 X 40073311 missense variant C/T snv 6.7E-04 5.2E-04 0.700 0
dbSNP: rs587776457
rs587776457
1 1.000 0.080 X 153930761 splice donor variant A/T snv 0.700 0
dbSNP: rs121434618
rs121434618
7 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.030 1.000 3 2004 2013