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rs869312911

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312911(C;G)
Make rs869312911(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position15160965
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs869312911
ebirs869312911
HLIrs869312911
Exacrs869312911
Varsomers869312911
Maprs869312911
PheGenIrs869312911
hapmaprs869312911
1000 genomesrs869312911
hgdprs869312911
ensemblrs869312911
gopubmedrs869312911
geneviewrs869312911
scholarrs869312911
googlers869312911
pharmgkbrs869312911
gwascentralrs869312911
openSNPrs869312911
23andMers869312911
23andMe allrs869312911
SNP Nexus

SNPshotrs869312911
SNPdbers869312911
MSV3drs869312911
GWAS Ctlgrs869312911
Max Magnitude0
ClinVar
Risk rs869312911(G;G)
Alt rs869312911(G;G)
Reference rs869312911(C;C)
Significance Pathogenic
Disease Lehman syndrome
Variation info
Gene NOTCH3
CLNDBN Lehman syndrome
Reversed 1
HGVS NC_000019.9:g.15271776G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210457.2,