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rs104894423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894423(A;A)
Make rs104894423(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position23324452
GeneSGCG
is asnp
is mentioned by
dbSNPrs104894423
ebirs104894423
HLIrs104894423
Exacrs104894423
Varsomers104894423
Maprs104894423
PheGenIrs104894423
hapmaprs104894423
1000 genomesrs104894423
hgdprs104894423
ensemblrs104894423
gopubmedrs104894423
geneviewrs104894423
scholarrs104894423
googlers104894423
pharmgkbrs104894423
gwascentralrs104894423
openSNPrs104894423
23andMers104894423
23andMe allrs104894423
SNP Nexus

SNPshotrs104894423
SNPdbers104894423
MSV3drs104894423
GWAS Ctlgrs104894423
Max Magnitude0
OMIM608896
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894423(A;A)
Alt rs104894423(A;A)
Reference rs104894423(G;G)
Significance Pathogenic
Disease Severe autosomal recessive muscular dystrophy of childhood - North African type not provided
Variation info
Gene SGCG
CLNDBN Severe autosomal recessive muscular dystrophy of childhood - North African type not provided
Reversed 0
HGVS NC_000013.10:g.23898591G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002086.3, RCV000078408.3,