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rs398123028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123028(C;T)
Make rs398123028(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position92729157
GeneBICD2
is asnp
is mentioned by
dbSNPrs398123028
ebirs398123028
HLIrs398123028
Exacrs398123028
Varsomers398123028
Maprs398123028
PheGenIrs398123028
hapmaprs398123028
1000 genomesrs398123028
hgdprs398123028
ensemblrs398123028
gopubmedrs398123028
geneviewrs398123028
scholarrs398123028
googlers398123028
pharmgkbrs398123028
gwascentralrs398123028
openSNPrs398123028
23andMers398123028
23andMe allrs398123028
SNP Nexus

SNPshotrs398123028
SNPdbers398123028
MSV3drs398123028
GWAS Ctlgrs398123028
Max Magnitude0
ClinVar
Risk rs398123028(T;T)
Alt rs398123028(T;T)
Reference rs398123028(C;C)
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.95491439G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000049274.2,