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rs1057517051

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1057517051(-;-)
Make rs1057517051(-;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position52028799
GeneSGCB
is asnp
is mentioned by
dbSNPrs1057517051
dbSNP (old)rs1057517051
ClinGenrs1057517051
ebirs1057517051
HLIrs1057517051
Exacrs1057517051
Gnomadrs1057517051
Varsomers1057517051
Maprs1057517051
PheGenIrs1057517051
Biobankrs1057517051
1000 genomesrs1057517051
hgdprs1057517051
ensemblrs1057517051
gopubmedrs1057517051
geneviewrs1057517051
scholarrs1057517051
googlers1057517051
pharmgkbrs1057517051
gwascentralrs1057517051
openSNPrs1057517051
23andMers1057517051
23andMe allrs1057517051
SNPshotrs1057517051
SNPdbers1057517051
MSV3drs1057517051
GWAS Ctlgrs1057517051
Max Magnitude0
ClinVar
Risk rs1057517051(-;-)
Alt rs1057517051(-;-)
Reference Rs1057517051(AT;AT)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCB
CLNDBN Limb-girdle muscular dystrophy, type 2E
Reversed 1
HGVS NC_000004.11:g.52894965_52894966delAT
CLNSRC
CLNACC RCV000410084.1,