Source: ALL
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: rs1291061962
rs1291061962
CLCN7
3 0.882 0.040 16 1456173 missense variant G/A snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs139329533
rs139329533
CLCN7
2 0.925 0.040 16 1450537 missense variant C/T snv 8.2E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs761401489
rs761401489
CLCN7
1 1.000 0.040 16 1451661 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012