Have questions? Visit https://www.reddit.com/r/SNPedia

rs150518260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs150518260(A;A)
Make rs150518260(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position52029766
GeneSGCB
is asnp
is mentioned by
dbSNPrs150518260
dbSNP (classic)rs150518260
ClinGenrs150518260
ebirs150518260
HLIrs150518260
Exacrs150518260
Gnomadrs150518260
Varsomers150518260
LitVarrs150518260
Maprs150518260
PheGenIrs150518260
Biobankrs150518260
1000 genomesrs150518260
hgdprs150518260
ensemblrs150518260
geneviewrs150518260
scholarrs150518260
googlers150518260
pharmgkbrs150518260
gwascentralrs150518260
openSNPrs150518260
23andMers150518260
SNPshotrs150518260
SNPdbers150518260
MSV3drs150518260
GWAS Ctlgrs150518260
Max Magnitude0
ClinVar
Risk rs150518260(A;A)
Alt rs150518260(A;A)
Reference Rs150518260(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided Beta-sarcoglycanopathy
Variation info
Gene SGCB
CLNDBN Limb-girdle muscular dystrophy, type 2E not provided Beta-sarcoglycanopathy
Reversed 0
HGVS NC_000004.11:g.52895932G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000177020.3, RCV000271872.1, RCV000340831.1,