Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852642(C;T)
Make rs137852642(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position15192242
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs137852642
ebirs137852642
HLIrs137852642
Exacrs137852642
Varsomers137852642
Maprs137852642
PheGenIrs137852642
hapmaprs137852642
1000 genomesrs137852642
hgdprs137852642
ensemblrs137852642
gopubmedrs137852642
geneviewrs137852642
scholarrs137852642
googlers137852642
pharmgkbrs137852642
gwascentralrs137852642
openSNPrs137852642
23andMers137852642
23andMe allrs137852642
SNP Nexus

SNPshotrs137852642
SNPdbers137852642
MSV3drs137852642
GWAS Ctlgrs137852642
Max Magnitude0
OMIM600276
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852642(A,T;A,T)
Alt rs137852642(A,T;A,T)
Reference rs137852642(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.15303053G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009806.3,