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: rs1569525894
rs1569525894
SLC9A6
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0