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rs796065045

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796065045(A;T)
Make rs796065045(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position15161381
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs796065045
ebirs796065045
HLIrs796065045
Exacrs796065045
Varsomers796065045
Maprs796065045
PheGenIrs796065045
hapmaprs796065045
1000 genomesrs796065045
hgdprs796065045
ensemblrs796065045
gopubmedrs796065045
geneviewrs796065045
scholarrs796065045
googlers796065045
pharmgkbrs796065045
gwascentralrs796065045
openSNPrs796065045
23andMers796065045
23andMe allrs796065045
SNP Nexus

SNPshotrs796065045
SNPdbers796065045
MSV3drs796065045
GWAS Ctlgrs796065045
Max Magnitude0
ClinVar
Risk rs796065045(T;T)
Alt rs796065045(T;T)
Reference rs796065045(A;A)
Significance Pathogenic
Disease Lehman syndrome
Variation info
Gene NOTCH3
CLNDBN Lehman syndrome
Reversed 1
HGVS NC_000019.9:g.15272192T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190331.3,