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: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs6473
rs6473
CYP21A2 ; TNXB
4 0.851 0.160 6 32041127 missense variant G/A;C snv 3.7E-04; 8.4E-06 0.010 1.000 1 2005 2005