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rs886042546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome4
Position52028779
GeneSGCB
is asnp
is mentioned by
dbSNPrs886042546
dbSNP (classic)rs886042546
ClinGenrs886042546
ebirs886042546
HLIrs886042546
Exacrs886042546
Gnomadrs886042546
Varsomers886042546
LitVarrs886042546
Maprs886042546
PheGenIrs886042546
Biobankrs886042546
1000 genomesrs886042546
hgdprs886042546
ensemblrs886042546
geneviewrs886042546
scholarrs886042546
googlers886042546
pharmgkbrs886042546
gwascentralrs886042546
openSNPrs886042546
23andMers886042546
SNPshotrs886042546
SNPdbers886042546
MSV3drs886042546
GWAS Ctlgrs886042546
Max Magnitude0
ClinVar
Risk rs886042546(-;-)
Alt rs886042546(-;-)
Reference Rs886042546(A;A)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCB
CLNDBN Limb-girdle muscular dystrophy, type 2E
Reversed 0
HGVS NC_000004.11:g.52894945delA
CLNSRC
CLNACC RCV000265848.1,