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rs863224881

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224881(A;C)
Make rs863224881(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position68911552
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs863224881
ebirs863224881
HLIrs863224881
Exacrs863224881
Varsomers863224881
Maprs863224881
PheGenIrs863224881
hapmaprs863224881
1000 genomesrs863224881
hgdprs863224881
ensemblrs863224881
gopubmedrs863224881
geneviewrs863224881
scholarrs863224881
googlers863224881
pharmgkbrs863224881
gwascentralrs863224881
openSNPrs863224881
23andMers863224881
23andMe allrs863224881
SNP Nexus

SNPshotrs863224881
SNPdbers863224881
MSV3drs863224881
GWAS Ctlgrs863224881
Max Magnitude0
ClinVar
Risk rs863224881(C;C)
Alt rs863224881(C;C)
Reference rs863224881(A;A)
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.68679020A>C
CLNSRC
CLNACC RCV000195889.1,