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rs398123031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123031(A;C)
Make rs398123031(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position92719122
GeneBICD2
is asnp
is mentioned by
dbSNPrs398123031
ebirs398123031
HLIrs398123031
Exacrs398123031
Varsomers398123031
Maprs398123031
PheGenIrs398123031
hapmaprs398123031
1000 genomesrs398123031
hgdprs398123031
ensemblrs398123031
gopubmedrs398123031
geneviewrs398123031
scholarrs398123031
googlers398123031
pharmgkbrs398123031
gwascentralrs398123031
openSNPrs398123031
23andMers398123031
23andMe allrs398123031
SNP Nexus

SNPshotrs398123031
SNPdbers398123031
MSV3drs398123031
GWAS Ctlgrs398123031
Max Magnitude0
ClinVar
Risk rs398123031(C;C)
Alt rs398123031(C;C)
Reference rs398123031(A;A)
Significance Pathogenic
Disease Spinal muscular atrophy
Variation info
Gene BICD2
CLNDBN Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant
Reversed 1
HGVS NC_000009.11:g.95481404T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049278.2,