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rs875989949

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs875989949(A;A)
Make rs875989949(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position23320748
GeneSGCG
is asnp
is mentioned by
dbSNPrs875989949
ebirs875989949
HLIrs875989949
Exacrs875989949
Varsomers875989949
Maprs875989949
PheGenIrs875989949
hapmaprs875989949
1000 genomesrs875989949
hgdprs875989949
ensemblrs875989949
gopubmedrs875989949
geneviewrs875989949
scholarrs875989949
googlers875989949
pharmgkbrs875989949
gwascentralrs875989949
openSNPrs875989949
23andMers875989949
23andMe allrs875989949
SNP Nexus

SNPshotrs875989949
SNPdbers875989949
MSV3drs875989949
GWAS Ctlgrs875989949
Max Magnitude0
ClinVar
Risk rs875989949(A;A)
Alt rs875989949(A;A)
Reference rs875989949(T;T)
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.23894887T>A
CLNSRC
CLNACC RCV000211579.1,