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rs398123032

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123032(C;C)
Make rs398123032(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position92719143
GeneBICD2
is asnp
is mentioned by
dbSNPrs398123032
ebirs398123032
HLIrs398123032
Exacrs398123032
Varsomers398123032
Maprs398123032
PheGenIrs398123032
hapmaprs398123032
1000 genomesrs398123032
hgdprs398123032
ensemblrs398123032
gopubmedrs398123032
geneviewrs398123032
scholarrs398123032
googlers398123032
pharmgkbrs398123032
gwascentralrs398123032
openSNPrs398123032
23andMers398123032
23andMe allrs398123032
SNP Nexus

SNPshotrs398123032
SNPdbers398123032
MSV3drs398123032
GWAS Ctlgrs398123032
Max Magnitude0
ClinVar
Risk rs398123032(C;C)
Alt rs398123032(C;C)
Reference rs398123032(G;G)
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.95481425C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049279.2,