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rs797045014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045014(C;T)
Make rs797045014(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position15192182
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs797045014
dbSNP (classic)rs797045014
ClinGenrs797045014
ebirs797045014
HLIrs797045014
Exacrs797045014
Gnomadrs797045014
Varsomers797045014
LitVarrs797045014
Maprs797045014
PheGenIrs797045014
Biobankrs797045014
1000 genomesrs797045014
hgdprs797045014
ensemblrs797045014
geneviewrs797045014
scholarrs797045014
googlers797045014
pharmgkbrs797045014
gwascentralrs797045014
openSNPrs797045014
23andMers797045014
SNPshotrs797045014
SNPdbers797045014
MSV3drs797045014
GWAS Ctlgrs797045014
Max Magnitude0
ClinVar
Risk rs797045014(T;T)
Alt rs797045014(T;T)
Reference Rs797045014(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.15302993G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000190514.1,