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rs28933696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28933696(C;T)
Make rs28933696(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position15192134
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs28933696
ebirs28933696
HLIrs28933696
Exacrs28933696
Varsomers28933696
Maprs28933696
PheGenIrs28933696
hapmaprs28933696
1000 genomesrs28933696
hgdprs28933696
ensemblrs28933696
gopubmedrs28933696
geneviewrs28933696
scholarrs28933696
googlers28933696
pharmgkbrs28933696
gwascentralrs28933696
openSNPrs28933696
23andMers28933696
23andMe allrs28933696
SNP Nexus

SNPshotrs28933696
SNPdbers28933696
MSV3drs28933696
GWAS Ctlgrs28933696
Max Magnitude0
OMIM600276
DescCEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Variant0002
Relatedalso
Neighborrs28933697
Distance39
Neighborrs28937321
Distance370


ClinVar
Risk rs28933696(T;T)
Alt rs28933696(T;T)
Reference rs28933696(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.15302945G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009800.3,