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rs587777735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777735(A;A)
Make rs587777735(A;C)
ReferenceGRCh38 38.1/142
Chromosome9
Position136519566
GeneMIR4673, NOTCH1
is asnp
is mentioned by
dbSNPrs587777735
dbSNP (classic)rs587777735
ClinGenrs587777735
ebirs587777735
HLIrs587777735
Exacrs587777735
Gnomadrs587777735
Varsomers587777735
LitVarrs587777735
Maprs587777735
PheGenIrs587777735
Biobankrs587777735
1000 genomesrs587777735
hgdprs587777735
ensemblrs587777735
geneviewrs587777735
scholarrs587777735
googlers587777735
pharmgkbrs587777735
gwascentralrs587777735
openSNPrs587777735
23andMers587777735
SNPshotrs587777735
SNPdbers587777735
MSV3drs587777735
GWAS Ctlgrs587777735
Max Magnitude0
ClinVar
Risk rs587777735(A;A)
Alt rs587777735(A;A)
Reference Rs587777735(C;C)
Significance Pathogenic
Disease Adams-Oliver syndrome 5 Adams-Oliver syndrome 1
Variation info
Gene MIR4673 NOTCH1
CLNDBN Adams-Oliver syndrome 5 Adams-Oliver syndrome 1
Reversed 0
HGVS NC_000009.11:g.139414018C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144234.3, RCV000148349.1,