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: rs1294950721
rs1294950721
JAG1
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs74315391
rs74315391
KCNQ2
6 0.827 0.120 20 63444730 missense variant G/A snv 0.010 1.000 1 2001 2001