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rs200502077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200502077(C;C)
Make rs200502077(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome13
Position23203890
GeneSGCG
is asnp
is mentioned by
dbSNPrs200502077
dbSNP (old)rs200502077
ClinGenrs200502077
ebirs200502077
HLIrs200502077
Exacrs200502077
Gnomadrs200502077
Varsomers200502077
Maprs200502077
PheGenIrs200502077
Biobankrs200502077
1000 genomesrs200502077
hgdprs200502077
ensemblrs200502077
gopubmedrs200502077
geneviewrs200502077
scholarrs200502077
googlers200502077
pharmgkbrs200502077
gwascentralrs200502077
openSNPrs200502077
23andMers200502077
23andMe allrs200502077
SNPshotrs200502077
SNPdbers200502077
MSV3drs200502077
GWAS Ctlgrs200502077
Max Magnitude0
ClinVar
Risk rs200502077(C;C)
Alt rs200502077(C;C)
Reference Rs200502077(G;G)
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.23778029G>C
CLNSRC
CLNACC RCV000340955.1,