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: rs1554199368
rs1554199368
NSD1
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs763028380
rs763028380
ABCC8
12 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0