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rs753324947

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs753324947(-;-)
Make rs753324947(-;C)
Make rs753324947(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position72210786
GeneASCC1
is asnp
is mentioned by
dbSNPrs753324947
ebirs753324947
HLIrs753324947
Exacrs753324947
Varsomers753324947
Maprs753324947
PheGenIrs753324947
hapmaprs753324947
1000 genomesrs753324947
hgdprs753324947
ensemblrs753324947
gopubmedrs753324947
geneviewrs753324947
scholarrs753324947
googlers753324947
pharmgkbrs753324947
gwascentralrs753324947
openSNPrs753324947
23andMers753324947
23andMe allrs753324947
SNP Nexus

SNPshotrs753324947
SNPdbers753324947
MSV3drs753324947
GWAS Ctlgrs753324947
Max Magnitude0
ClinVar
Risk rs753324947(C;C)
Alt rs753324947(C;C)
Reference rs753324947(;)
Significance Pathogenic
Disease Spinal muscular atrophy with congenital bone fractures 2
Variation info
Gene ASCC1
CLNDBN Spinal muscular atrophy with congenital bone fractures 2
Reversed 0
HGVS NC_000010.10:g.73970545dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000210274.1,