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rs28937321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937321(G;T)
Make rs28937321(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position15192504
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs28937321
ebirs28937321
HLIrs28937321
Exacrs28937321
Varsomers28937321
Maprs28937321
PheGenIrs28937321
hapmaprs28937321
1000 genomesrs28937321
hgdprs28937321
ensemblrs28937321
gopubmedrs28937321
geneviewrs28937321
scholarrs28937321
googlers28937321
pharmgkbrs28937321
gwascentralrs28937321
openSNPrs28937321
23andMers28937321
23andMe allrs28937321
SNP Nexus

SNPshotrs28937321
SNPdbers28937321
MSV3drs28937321
GWAS Ctlgrs28937321
Max Magnitude0
OMIM600276
DescCEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Variant0001
Relatedalso
Neighborrs28933696
Distance370
ClinVar
Risk rs28937321(T;T)
Alt rs28937321(T;T)
Reference rs28937321(G;G)
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.15303315C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009799.3,