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rs398123029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123029(A;C)
Make rs398123029(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position92722699
GeneBICD2
is asnp
is mentioned by
dbSNPrs398123029
ebirs398123029
HLIrs398123029
Exacrs398123029
Varsomers398123029
Maprs398123029
PheGenIrs398123029
hapmaprs398123029
1000 genomesrs398123029
hgdprs398123029
ensemblrs398123029
gopubmedrs398123029
geneviewrs398123029
scholarrs398123029
googlers398123029
pharmgkbrs398123029
gwascentralrs398123029
openSNPrs398123029
23andMers398123029
23andMe allrs398123029
SNP Nexus

SNPshotrs398123029
SNPdbers398123029
MSV3drs398123029
GWAS Ctlgrs398123029
Max Magnitude0
ClinVar
Risk rs398123029(C;C)
Alt rs398123029(C;C)
Reference rs398123029(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.95484981T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049276.2,