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: rs137852981
rs137852981
ZEB2
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
22 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0