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rs137852641

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852641(C;T)
Make rs137852641(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position15191466
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs137852641
ebirs137852641
HLIrs137852641
Exacrs137852641
Varsomers137852641
Maprs137852641
PheGenIrs137852641
hapmaprs137852641
1000 genomesrs137852641
hgdprs137852641
ensemblrs137852641
gopubmedrs137852641
geneviewrs137852641
scholarrs137852641
googlers137852641
pharmgkbrs137852641
gwascentralrs137852641
openSNPrs137852641
23andMers137852641
23andMe allrs137852641
SNP Nexus

SNPshotrs137852641
SNPdbers137852641
MSV3drs137852641
GWAS Ctlgrs137852641
Max Magnitude0
OMIM600276
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852641(T;T)
Alt rs137852641(T;T)
Reference rs137852641(C;C)
Significance Pathogenic
Disease Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Variation info
Gene NOTCH3
CLNDBN Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Reversed 1
HGVS NC_000019.9:g.15302277G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009805.5,