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rs796065352

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796065352(G;T)
Make rs796065352(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position34637546
GeneSIGMAR1
is asnp
is mentioned by
dbSNPrs796065352
ebirs796065352
HLIrs796065352
Exacrs796065352
Varsomers796065352
Maprs796065352
PheGenIrs796065352
hapmaprs796065352
1000 genomesrs796065352
hgdprs796065352
ensemblrs796065352
gopubmedrs796065352
geneviewrs796065352
scholarrs796065352
googlers796065352
pharmgkbrs796065352
gwascentralrs796065352
openSNPrs796065352
23andMers796065352
23andMe allrs796065352
SNP Nexus

SNPshotrs796065352
SNPdbers796065352
MSV3drs796065352
GWAS Ctlgrs796065352
Max Magnitude0
ClinVar
Risk rs796065352(T;T)
Alt rs796065352(T;T)
Reference rs796065352(G;G)
Significance Pathogenic
Disease Distal spinal muscular atrophy
Variation info
Gene SIGMAR1
CLNDBN Distal spinal muscular atrophy, autosomal recessive 2
Reversed 1
HGVS NC_000009.11:g.34637543C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190343.3,