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rs104894422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894422(A;A)
Make rs104894422(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position23324513
GeneSGCG
is asnp
is mentioned by
dbSNPrs104894422
ebirs104894422
HLIrs104894422
Exacrs104894422
Varsomers104894422
Maprs104894422
PheGenIrs104894422
hapmaprs104894422
1000 genomesrs104894422
hgdprs104894422
ensemblrs104894422
gopubmedrs104894422
geneviewrs104894422
scholarrs104894422
googlers104894422
pharmgkbrs104894422
gwascentralrs104894422
openSNPrs104894422
23andMers104894422
23andMe allrs104894422
SNP Nexus

SNPshotrs104894422
SNPdbers104894422
MSV3drs104894422
GWAS Ctlgrs104894422
Max Magnitude0
OMIM608896
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894422(A;A)
Alt rs104894422(A;A)
Reference rs104894422(G;G)
Significance Pathogenic
Disease Severe autosomal recessive muscular dystrophy of childhood - North African type
Variation info
Gene SGCG
CLNDBN Severe autosomal recessive muscular dystrophy of childhood - North African type
Reversed 0
HGVS NC_000013.10:g.23898652G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002083.2,