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rs104893871

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893871(A;A)
Make rs104893871(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position52029808
GeneSGCB
is asnp
is mentioned by
dbSNPrs104893871
ebirs104893871
HLIrs104893871
Exacrs104893871
Varsomers104893871
Maprs104893871
PheGenIrs104893871
hapmaprs104893871
1000 genomesrs104893871
hgdprs104893871
ensemblrs104893871
gopubmedrs104893871
geneviewrs104893871
scholarrs104893871
googlers104893871
pharmgkbrs104893871
gwascentralrs104893871
openSNPrs104893871
23andMers104893871
23andMe allrs104893871
SNP Nexus

SNPshotrs104893871
SNPdbers104893871
MSV3drs104893871
GWAS Ctlgrs104893871
Merged fromRs28936386
Max Magnitude0
OMIM600900
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893871(A;A)
Alt rs104893871(A;A)
Reference rs104893871(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.52895974A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009256.5,