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rs1057517064

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AACAG;AACAG) 0 common in clinvar
Make rs1057517064(-;-)
Make rs1057517064(-;AACAG)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position52038227
GeneSGCB
is asnp
is mentioned by
dbSNPrs1057517064
dbSNP (classic)rs1057517064
ClinGenrs1057517064
ebirs1057517064
HLIrs1057517064
Exacrs1057517064
Gnomadrs1057517064
Varsomers1057517064
LitVarrs1057517064
Maprs1057517064
PheGenIrs1057517064
Biobankrs1057517064
1000 genomesrs1057517064
hgdprs1057517064
ensemblrs1057517064
geneviewrs1057517064
scholarrs1057517064
googlers1057517064
pharmgkbrs1057517064
gwascentralrs1057517064
openSNPrs1057517064
23andMers1057517064
23andMe allrs1057517064
SNPshotrs1057517064
SNPdbers1057517064
MSV3drs1057517064
GWAS Ctlgrs1057517064
Max Magnitude0
ClinVar
Risk rs1057517064(-;-)
Alt rs1057517064(-;-)
Reference Rs1057517064(AACAG;AACAG)
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.52904393_52904397delCTGTT
CLNSRC
CLNACC RCV000411494.1,