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: rs121918353
rs121918353
JAG1
1 1.000 0.200 20 10656452 missense variant C/T snv 0.800 1.000 2 2002 2010
dbSNP: rs121918351
rs121918351
JAG1
3 0.882 0.240 20 10658611 missense variant C/T snv 0.700 0