Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123030(A;G)
Make rs398123030(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position92715401
GeneBICD2
is asnp
is mentioned by
dbSNPrs398123030
ebirs398123030
HLIrs398123030
Exacrs398123030
Varsomers398123030
Maprs398123030
PheGenIrs398123030
hapmaprs398123030
1000 genomesrs398123030
hgdprs398123030
ensemblrs398123030
gopubmedrs398123030
geneviewrs398123030
scholarrs398123030
googlers398123030
pharmgkbrs398123030
gwascentralrs398123030
openSNPrs398123030
23andMers398123030
23andMe allrs398123030
SNP Nexus

SNPshotrs398123030
SNPdbers398123030
MSV3drs398123030
GWAS Ctlgrs398123030
Max Magnitude0
ClinVar
Risk rs398123030(G;G)
Alt rs398123030(G;G)
Reference rs398123030(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.95477683T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000049277.2,