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rs3815188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3815188(A;A)
Make rs3815188(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position15192414
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs3815188
dbSNP (classic)rs3815188
ClinGenrs3815188
ebirs3815188
HLIrs3815188
Exacrs3815188
Gnomadrs3815188
Varsomers3815188
LitVarrs3815188
Maprs3815188
PheGenIrs3815188
Biobankrs3815188
1000 genomesrs3815188
hgdprs3815188
ensemblrs3815188
geneviewrs3815188
scholarrs3815188
googlers3815188
pharmgkbrs3815188
gwascentralrs3815188
openSNPrs3815188
23andMers3815188
SNPshotrs3815188
SNPdbers3815188
MSV3drs3815188
GWAS Ctlgrs3815188
GMAF0.2383
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 24086431OA-icon.png] NOTCH3 Variants and Risk of Ischemic Stroke


[PMID 22373597] Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.


[PMID 22664156] Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).


[PMID 25120811OA-icon.png] Notch1 single nucleotide polymorphism rs3124591 is associated with the risk of development of invasive ductal breast carcinoma in a Chinese population


ClinVar
Risk rs3815188(A;A) rs3815188(T;T)
Alt rs3815188(A;A) rs3815188(T;T)
Reference Rs3815188(G;G)
Significance Non-pathogenic
Disease not specified Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Variation info
Gene NOTCH3
CLNDBN not specified Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Reversed 0
HGVS NC_000019.9:g.15303225G>A
CLNSRC
CLNACC RCV000251392.1, RCV000373577.1,



[PMID 29973002] [Association between polymorphism in notch signaling pathway and lung cancer risk].