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rs74315513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315513(C;T)
Make rs74315513(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position23787203
GeneSMARCB1
is asnp
is mentioned by
dbSNPrs74315513
ebirs74315513
HLIrs74315513
Exacrs74315513
Varsomers74315513
Maprs74315513
PheGenIrs74315513
hapmaprs74315513
1000 genomesrs74315513
hgdprs74315513
ensemblrs74315513
gopubmedrs74315513
geneviewrs74315513
scholarrs74315513
googlers74315513
pharmgkbrs74315513
gwascentralrs74315513
openSNPrs74315513
23andMers74315513
23andMe allrs74315513
SNP Nexus

SNPshotrs74315513
SNPdbers74315513
MSV3drs74315513
GWAS Ctlgrs74315513
Max Magnitude0
OMIM601607
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315513(T;T)
Alt rs74315513(T;T)
Reference rs74315513(C;C)
Significance Pathogenic
Disease SCHWANNOMATOSIS 1
Variation info
Gene SMARCB1
CLNDBN SCHWANNOMATOSIS 1
Reversed 0
HGVS NC_000022.10:g.24129390C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008490.4,