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rs797044783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044783(-;C)
Make rs797044783(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23324400
GeneLOC107984585, SGCG
is asnp
is mentioned by
dbSNPrs797044783
dbSNP (old)rs797044783
ClinGenrs797044783
ebirs797044783
HLIrs797044783
Exacrs797044783
Gnomadrs797044783
Varsomers797044783
Maprs797044783
PheGenIrs797044783
Biobankrs797044783
1000 genomesrs797044783
hgdprs797044783
ensemblrs797044783
gopubmedrs797044783
geneviewrs797044783
scholarrs797044783
googlers797044783
pharmgkbrs797044783
gwascentralrs797044783
openSNPrs797044783
23andMers797044783
23andMe allrs797044783
SNP Nexus

SNPshotrs797044783
SNPdbers797044783
MSV3drs797044783
GWAS Ctlgrs797044783
Max Magnitude0
ClinVar
Risk rs797044783(C;C)
Alt rs797044783(C;C)
Reference Rs797044783(-;-)
Significance Pathogenic
Disease Severe autosomal recessive muscular dystrophy of childhood - North African type
Variation info
Gene SGCG
CLNDBN Severe autosomal recessive muscular dystrophy of childhood - North African type
Reversed 0
HGVS NC_000013.10:g.23898539dupC
CLNSRC
CLNACC RCV000180113.1,