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rs797045106

From SNPedia

Orientationplus
Geno Mag Summary
(AGTA;AGTA) 0 common in clinvar
Make rs797045106(-;-)
Make rs797045106(-;AGTA)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position23203893
GeneSGCG
is asnp
is mentioned by
dbSNPrs797045106
ebirs797045106
HLIrs797045106
Exacrs797045106
Varsomers797045106
Maprs797045106
PheGenIrs797045106
hapmaprs797045106
1000 genomesrs797045106
hgdprs797045106
ensemblrs797045106
gopubmedrs797045106
geneviewrs797045106
scholarrs797045106
googlers797045106
pharmgkbrs797045106
gwascentralrs797045106
openSNPrs797045106
23andMers797045106
23andMe allrs797045106
SNP Nexus

SNPshotrs797045106
SNPdbers797045106
MSV3drs797045106
GWAS Ctlgrs797045106
Max Magnitude0
ClinVar
Risk rs797045106(;)
Alt rs797045106(;)
Reference rs797045106(AGTA;AGTA)
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.23778032_23778035delAGTA
CLNSRC
CLNACC RCV000190623.1,