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rs863224880

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224880(A;A)
Make rs863224880(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position68906074
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs863224880
ebirs863224880
HLIrs863224880
Exacrs863224880
Varsomers863224880
Maprs863224880
PheGenIrs863224880
hapmaprs863224880
1000 genomesrs863224880
hgdprs863224880
ensemblrs863224880
gopubmedrs863224880
geneviewrs863224880
scholarrs863224880
googlers863224880
pharmgkbrs863224880
gwascentralrs863224880
openSNPrs863224880
23andMers863224880
23andMe allrs863224880
SNP Nexus

SNPshotrs863224880
SNPdbers863224880
MSV3drs863224880
GWAS Ctlgrs863224880
Max Magnitude0
ClinVar
Risk rs863224880(A;A)
Alt rs863224880(A;A)
Reference rs863224880(G;G)
Significance Probable-Pathogenic
Disease Spinal muscular atrophy
Variation info
Gene IGHMBP2
CLNDBN Spinal muscular atrophy, distal, autosomal recessive, 1
Reversed 0
HGVS NC_000011.9:g.68673542G>A
CLNSRC
CLNACC RCV000195889.1,