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: rs145069047
rs145069047
NOTCH3
2 0.925 0.160 19 15192493 missense variant C/A;G;T snv 4.6E-06; 2.6E-04 0.030 1.000 3 2006 2020