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rs121434496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121434496(C;T)
Make rs121434496(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position23803338
GeneSMARCB1
is asnp
is mentioned by
dbSNPrs121434496
ebirs121434496
HLIrs121434496
Exacrs121434496
Varsomers121434496
Maprs121434496
PheGenIrs121434496
hapmaprs121434496
1000 genomesrs121434496
hgdprs121434496
ensemblrs121434496
gopubmedrs121434496
geneviewrs121434496
scholarrs121434496
googlers121434496
pharmgkbrs121434496
gwascentralrs121434496
openSNPrs121434496
23andMers121434496
23andMe allrs121434496
SNP Nexus

SNPshotrs121434496
SNPdbers121434496
MSV3drs121434496
GWAS Ctlgrs121434496
Max Magnitude0
OMIM601607
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434496(T;T)
Alt rs121434496(T;T)
Reference rs121434496(C;C)
Significance Pathogenic
Disease Schwannomatosis 1
Variation info
Gene SMARCB1
CLNDBN Schwannomatosis 1, somatic
Reversed 0
HGVS NC_000022.10:g.24145525C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008491.5,