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rs1057516515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CATT;CATT) 0 common in clinvar
Make rs1057516515(-;-)
Make rs1057516515(-;CATT)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position52028019
GeneSGCB
is asnp
is mentioned by
dbSNPrs1057516515
dbSNP (old)rs1057516515
ClinGenrs1057516515
ebirs1057516515
HLIrs1057516515
Exacrs1057516515
Gnomadrs1057516515
Varsomers1057516515
Maprs1057516515
PheGenIrs1057516515
Biobankrs1057516515
1000 genomesrs1057516515
hgdprs1057516515
ensemblrs1057516515
gopubmedrs1057516515
geneviewrs1057516515
scholarrs1057516515
googlers1057516515
pharmgkbrs1057516515
gwascentralrs1057516515
openSNPrs1057516515
23andMers1057516515
23andMe allrs1057516515
SNPshotrs1057516515
SNPdbers1057516515
MSV3drs1057516515
GWAS Ctlgrs1057516515
Max Magnitude0
ClinVar
Risk rs1057516515(-;-)
Alt rs1057516515(-;-)
Reference Rs1057516515(CATT;CATT)
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.52894185_52894188delAATG
CLNSRC
CLNACC RCV000410503.1,