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rs587776679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATGGTAAAAAAACA;ATGGTAAAAAAACA) 0 common in clinvar
Make rs587776679(ATGGTAAAAAAACA;TACC)
Make rs587776679(TACC;TACC)
ReferenceGRCh38 38.1/142
Chromosome22
Position23791865
GeneSMARCB1
is asnp
is mentioned by
dbSNPrs587776679
dbSNP (old)rs587776679
ClinGenrs587776679
ebirs587776679
HLIrs587776679
Exacrs587776679
Gnomadrs587776679
Varsomers587776679
Maprs587776679
PheGenIrs587776679
Biobankrs587776679
1000 genomesrs587776679
hgdprs587776679
ensemblrs587776679
gopubmedrs587776679
geneviewrs587776679
scholarrs587776679
googlers587776679
pharmgkbrs587776679
gwascentralrs587776679
openSNPrs587776679
23andMers587776679
23andMe allrs587776679
SNP Nexus

SNPshotrs587776679
SNPdbers587776679
MSV3drs587776679
GWAS Ctlgrs587776679
Max Magnitude0
ClinVar
Risk rs587776679(TACC;TACC)
Alt rs587776679(TACC;TACC)
Reference Rs587776679(ATGGTAAAAAAACA;ATGGTAAAAAAACA)
Significance Pathogenic
Disease Schwannomatosis 1
Variation info
Gene SMARCB1
CLNDBN Schwannomatosis 1
Reversed 0
HGVS NC_000022.10:g.24134052_24134065delATGGTAAAAAAACAinsTACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008492.4,