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rs104893868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893868(G;G)
Make rs104893868(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position52028799
GeneSGCB
is asnp
is mentioned by
dbSNPrs104893868
ebirs104893868
HLIrs104893868
Exacrs104893868
Varsomers104893868
Maprs104893868
PheGenIrs104893868
hapmaprs104893868
1000 genomesrs104893868
hgdprs104893868
ensemblrs104893868
gopubmedrs104893868
geneviewrs104893868
scholarrs104893868
googlers104893868
pharmgkbrs104893868
gwascentralrs104893868
openSNPrs104893868
23andMers104893868
23andMe allrs104893868
SNP Nexus

SNPshotrs104893868
SNPdbers104893868
MSV3drs104893868
GWAS Ctlgrs104893868
Max Magnitude0
OMIM600900
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893868(G;G)
Alt rs104893868(G;G)
Reference rs104893868(T;T)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCB
CLNDBN Limb-girdle muscular dystrophy, type 2E
Reversed 1
HGVS NC_000004.11:g.52894965A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009251.3,