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rs28933698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28933698(C;C)
Make rs28933698(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position15189004
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs28933698
ebirs28933698
HLIrs28933698
Exacrs28933698
Varsomers28933698
Maprs28933698
PheGenIrs28933698
hapmaprs28933698
1000 genomesrs28933698
hgdprs28933698
ensemblrs28933698
gopubmedrs28933698
geneviewrs28933698
scholarrs28933698
googlers28933698
pharmgkbrs28933698
gwascentralrs28933698
openSNPrs28933698
23andMers28933698
23andMe allrs28933698
SNP Nexus

SNPshotrs28933698
SNPdbers28933698
MSV3drs28933698
GWAS Ctlgrs28933698
Max Magnitude0
OMIM600276
DescCEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Variant0006
Relatedalso


ClinVar
Risk rs28933698(C;C)
Alt rs28933698(C;C)
Reference rs28933698(T;T)
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.15299815A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009804.5,