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rs782007828

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs782007828(-;-)
Make rs782007828(-;CT)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position133352139
GeneSURF1
is asnp
is mentioned by
dbSNPrs782007828
dbSNP (classic)rs782007828
ClinGenrs782007828
ebirs782007828
HLIrs782007828
Exacrs782007828
Gnomadrs782007828
Varsomers782007828
LitVarrs782007828
Maprs782007828
PheGenIrs782007828
Biobankrs782007828
1000 genomesrs782007828
hgdprs782007828
ensemblrs782007828
geneviewrs782007828
scholarrs782007828
googlers782007828
pharmgkbrs782007828
gwascentralrs782007828
openSNPrs782007828
23andMers782007828
SNPshotrs782007828
SNPdbers782007828
MSV3drs782007828
GWAS Ctlgrs782007828
Max Magnitude0
ClinVar
Risk rs782007828(-;-)
Alt rs782007828(-;-)
Reference Rs782007828(CT;CT)
Significance Probable-Pathogenic
Disease Leigh syndrome
Variation info
Gene SURF1
CLNDBN Leigh syndrome
Reversed 0
HGVS NC_000009.11:g.136218994_136218995delCT
CLNSRC Illumina
CLNACC RCV000312508.1,