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rs104893869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893869(C;C)
Make rs104893869(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position52029835
GeneSGCB
is asnp
is mentioned by
dbSNPrs104893869
ebirs104893869
HLIrs104893869
Exacrs104893869
Varsomers104893869
Maprs104893869
PheGenIrs104893869
hapmaprs104893869
1000 genomesrs104893869
hgdprs104893869
ensemblrs104893869
gopubmedrs104893869
geneviewrs104893869
scholarrs104893869
googlers104893869
pharmgkbrs104893869
gwascentralrs104893869
openSNPrs104893869
23andMers104893869
23andMe allrs104893869
SNP Nexus

SNPshotrs104893869
SNPdbers104893869
MSV3drs104893869
GWAS Ctlgrs104893869
Merged fromRs28936384
Max Magnitude0
OMIM600900
Desc
Variant0008
Relatedalso
OMIM600900
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893869(A,C,T;A,C,T)
Alt rs104893869(A,C,T;A,C,T)
Reference rs104893869(G;G)
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.52896001C>A; NC_000004.11:g.52896001C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009257.3, RCV000009254.3,