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rs28933697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28933697(C;T)
Make rs28933697(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position15192095
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs28933697
ebirs28933697
HLIrs28933697
Exacrs28933697
Varsomers28933697
Maprs28933697
PheGenIrs28933697
hapmaprs28933697
1000 genomesrs28933697
hgdprs28933697
ensemblrs28933697
gopubmedrs28933697
geneviewrs28933697
scholarrs28933697
googlers28933697
pharmgkbrs28933697
gwascentralrs28933697
openSNPrs28933697
23andMers28933697
23andMe allrs28933697
SNP Nexus

SNPshotrs28933697
SNPdbers28933697
MSV3drs28933697
GWAS Ctlgrs28933697
Max Magnitude0
OMIM600276
DescCEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Variant0003
Relatedalso
Neighborrs28933696
Distance39


ClinVar
Risk rs28933697(T;T)
Alt rs28933697(T;T)
Reference rs28933697(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.15302906G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009801.5,