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rs200206447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200206447(C;C)
Make rs200206447(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome13
Position23250719
GeneSGCG
is asnp
is mentioned by
dbSNPrs200206447
dbSNP (old)rs200206447
ClinGenrs200206447
ebirs200206447
HLIrs200206447
Exacrs200206447
Gnomadrs200206447
Varsomers200206447
Maprs200206447
PheGenIrs200206447
Biobankrs200206447
1000 genomesrs200206447
hgdprs200206447
ensemblrs200206447
gopubmedrs200206447
geneviewrs200206447
scholarrs200206447
googlers200206447
pharmgkbrs200206447
gwascentralrs200206447
openSNPrs200206447
23andMers200206447
23andMe allrs200206447
SNPshotrs200206447
SNPdbers200206447
MSV3drs200206447
GWAS Ctlgrs200206447
Max Magnitude0
ClinVar
Risk rs200206447(C;C) rs200206447(G;G)
Alt rs200206447(C;C) rs200206447(G;G)
Reference Rs200206447(T;T)
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.23824858T>G
CLNSRC
CLNACC RCV000268479.1,