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rs863224926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224926(C;C)
Make rs863224926(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position133356268
GeneSURF1, SURF2
is asnp
is mentioned by
dbSNPrs863224926
dbSNP (classic)rs863224926
ClinGenrs863224926
ebirs863224926
HLIrs863224926
Exacrs863224926
Gnomadrs863224926
Varsomers863224926
LitVarrs863224926
Maprs863224926
PheGenIrs863224926
Biobankrs863224926
1000 genomesrs863224926
hgdprs863224926
ensemblrs863224926
geneviewrs863224926
scholarrs863224926
googlers863224926
pharmgkbrs863224926
gwascentralrs863224926
openSNPrs863224926
23andMers863224926
SNPshotrs863224926
SNPdbers863224926
MSV3drs863224926
GWAS Ctlgrs863224926
Max Magnitude0
ClinVar
Risk rs863224926(C;C)
Alt rs863224926(C;C)
Reference Rs863224926(G;G)
Significance Probable-Pathogenic
Disease Leigh syndrome
Variation info
Gene SURF2 SURF1
CLNDBN Leigh syndrome
Reversed 1
HGVS NC_000009.11:g.136223123C>G
CLNSRC
CLNACC RCV000196131.1,