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rs761562076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs761562076(A;A)
Make rs761562076(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136497146
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs761562076
dbSNP (classic)rs761562076
ClinGenrs761562076
ebirs761562076
HLIrs761562076
Exacrs761562076
Gnomadrs761562076
Varsomers761562076
LitVarrs761562076
Maprs761562076
PheGenIrs761562076
Biobankrs761562076
1000 genomesrs761562076
hgdprs761562076
ensemblrs761562076
geneviewrs761562076
scholarrs761562076
googlers761562076
pharmgkbrs761562076
gwascentralrs761562076
openSNPrs761562076
23andMers761562076
SNPshotrs761562076
SNPdbers761562076
MSV3drs761562076
GWAS Ctlgrs761562076
Max Magnitude0
ClinVar
Risk rs761562076(A;A) rs761562076(T;T)
Alt rs761562076(A;A) rs761562076(T;T)
Reference Rs761562076(G;G)
Significance Pathogenic
Disease Adams-Oliver syndrome 5 not provided
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5 not provided
Reversed 0
HGVS NC_000009.11:g.139391598G>A; NC_000009.11:g.139391598G>T
CLNSRC
CLNACC RCV000227496.1, RCV000489297.1,