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rs786204786

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204786(-;-)
Make rs786204786(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23295434
GeneSGCG
is asnp
is mentioned by
dbSNPrs786204786
ebirs786204786
HLIrs786204786
Exacrs786204786
Varsomers786204786
Maprs786204786
PheGenIrs786204786
hapmaprs786204786
1000 genomesrs786204786
hgdprs786204786
ensemblrs786204786
gopubmedrs786204786
geneviewrs786204786
scholarrs786204786
googlers786204786
pharmgkbrs786204786
gwascentralrs786204786
openSNPrs786204786
23andMers786204786
23andMe allrs786204786
SNP Nexus

SNPshotrs786204786
SNPdbers786204786
MSV3drs786204786
GWAS Ctlgrs786204786
Max Magnitude0
ClinVar
Risk rs786204786(;)
Alt rs786204786(;)
Reference rs786204786(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.23869573delT
CLNSRC Quest Diagnostics
CLNACC RCV000169675.2,