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: rs1557802165
rs1557802165
NOTCH2
1 1.000 0.080 1 119916219 frameshift variant G/- delins 0.700 1.000 1 2016 2016