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: rs3815188
rs3815188
NOTCH3
6 0.827 0.120 19 15192414 synonymous variant G/A;T snv 0.17 0.010 1.000 1 2014 2014