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rs367543285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs367543285(C;C)
Make rs367543285(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position15174248
GeneNOTCH3
is asnp
is mentioned by
dbSNPrs367543285
ebirs367543285
HLIrs367543285
Exacrs367543285
Varsomers367543285
Maprs367543285
PheGenIrs367543285
hapmaprs367543285
1000 genomesrs367543285
hgdprs367543285
ensemblrs367543285
gopubmedrs367543285
geneviewrs367543285
scholarrs367543285
googlers367543285
pharmgkbrs367543285
gwascentralrs367543285
openSNPrs367543285
23andMers367543285
23andMe allrs367543285
SNP Nexus

SNPshotrs367543285
SNPdbers367543285
MSV3drs367543285
GWAS Ctlgrs367543285
Max Magnitude0
ClinVar
Risk rs367543285(C;C)
Alt rs367543285(C;C)
Reference rs367543285(T;T)
Significance Pathogenic
Disease Infantile myofibromatosis 2 Infantile myofibromatosis 1
Variation info
Gene NOTCH3
CLNDBN Infantile myofibromatosis 2 Infantile myofibromatosis 1
Reversed 1
HGVS NC_000019.9:g.15285059A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049266.5, RCV000049572.1,