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rs28933402

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28933402(A;A)
Make rs28933402(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133353893
GeneSURF1
is asnp
is mentioned by
dbSNPrs28933402
ebirs28933402
HLIrs28933402
Exacrs28933402
Varsomers28933402
Maprs28933402
PheGenIrs28933402
hapmaprs28933402
1000 genomesrs28933402
hgdprs28933402
ensemblrs28933402
gopubmedrs28933402
geneviewrs28933402
scholarrs28933402
googlers28933402
pharmgkbrs28933402
gwascentralrs28933402
openSNPrs28933402
23andMers28933402
23andMe allrs28933402
SNP Nexus

SNPshotrs28933402
SNPdbers28933402
MSV3drs28933402
GWAS Ctlgrs28933402
Max Magnitude0
OMIM185620
DescLEIGH SYNDROME DUE TO CYTOCHROME c OXIDASE DEFICIENCY
Variant0012
Relatedalso
Leigh syndrome is more common in some French-Canadian populations. [PMID 12529507OA-icon.png]


ClinVar
Risk rs28933402(A;A)
Alt rs28933402(A;A)
Reference rs28933402(G;G)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene SURF1
CLNDBN Congenital myasthenic syndrome, acetazolamide-responsive
Reversed 1
HGVS NC_000009.11:g.136220748C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013606.17,