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rs104893870

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893870(G;G)
Make rs104893870(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position52029784
GeneSGCB
is asnp
is mentioned by
dbSNPrs104893870
ebirs104893870
HLIrs104893870
Exacrs104893870
Varsomers104893870
Maprs104893870
PheGenIrs104893870
hapmaprs104893870
1000 genomesrs104893870
hgdprs104893870
ensemblrs104893870
gopubmedrs104893870
geneviewrs104893870
scholarrs104893870
googlers104893870
pharmgkbrs104893870
gwascentralrs104893870
openSNPrs104893870
23andMers104893870
23andMe allrs104893870
SNP Nexus

SNPshotrs104893870
SNPdbers104893870
MSV3drs104893870
GWAS Ctlgrs104893870
Max Magnitude0
OMIM600900
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893870(G;G)
Alt rs104893870(G;G)
Reference rs104893870(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.52895950A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009255.5,