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rs1057516360

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GTTT;GTTT) 0 common in clinvar
Make rs1057516360(-;-)
Make rs1057516360(-;GTTT)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position52033455
GeneSGCB
is asnp
is mentioned by
dbSNPrs1057516360
dbSNP (old)rs1057516360
ClinGenrs1057516360
ebirs1057516360
HLIrs1057516360
Exacrs1057516360
Gnomadrs1057516360
Varsomers1057516360
Maprs1057516360
PheGenIrs1057516360
Biobankrs1057516360
1000 genomesrs1057516360
hgdprs1057516360
ensemblrs1057516360
gopubmedrs1057516360
geneviewrs1057516360
scholarrs1057516360
googlers1057516360
pharmgkbrs1057516360
gwascentralrs1057516360
openSNPrs1057516360
23andMers1057516360
23andMe allrs1057516360
SNPshotrs1057516360
SNPdbers1057516360
MSV3drs1057516360
GWAS Ctlgrs1057516360
Max Magnitude0
ClinVar
Risk rs1057516360(-;-)
Alt rs1057516360(-;-)
Reference Rs1057516360(GTTT;GTTT)
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.52899621_52899624delAAAC
CLNSRC
CLNACC RCV000412246.1,