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rs35769976

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs35769976(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position15180765
GeneMIR6795, NOTCH3
is asnp
is mentioned by
dbSNPrs35769976
ebirs35769976
HLIrs35769976
Exacrs35769976
Varsomers35769976
Maprs35769976
PheGenIrs35769976
hapmaprs35769976
1000 genomesrs35769976
hgdprs35769976
ensemblrs35769976
gopubmedrs35769976
geneviewrs35769976
scholarrs35769976
googlers35769976
pharmgkbrs35769976
gwascentralrs35769976
openSNPrs35769976
23andMers35769976
23andMe allrs35769976
SNP Nexus

SNPshotrs35769976
SNPdbers35769976
MSV3drs35769976
GWAS Ctlgrs35769976
GMAF0.08356
Max Magnitude0
OMIM600276
DescNOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3
Variant
Relatedalso
OMIM600276
Desc
Variant0010
Relatedalso
ClinVar
Risk rs35769976(A,G,T;A,G,T)
Alt rs35769976(A,G,T;A,G,T)
Reference rs35769976(C;C)
Significance Pathogenic
Disease Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Variation info
Gene NOTCH3 MIR6795
CLNDBN Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Reversed 0
HGVS NC_000019.9:g.15291576C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009808.2,


GET Evidence
NOTCH3-A1020P
aa_change Ala1020Pro
aa_change_short A1020P
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.111835
summary Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data.