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rs863224228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCTGCCAGCC;TCTGCCAGCC) 0 common in clinvar
Make rs863224228(AT;AT)
Make rs863224228(AT;TCTGCCAGCC)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position133354661
GeneSURF1, SURF2
is asnp
is mentioned by
dbSNPrs863224228
ClinGenrs863224228
ebirs863224228
HLIrs863224228
Exacrs863224228
Varsomers863224228
Maprs863224228
PheGenIrs863224228
hapmaprs863224228
1000 genomesrs863224228
hgdprs863224228
ensemblrs863224228
gopubmedrs863224228
geneviewrs863224228
scholarrs863224228
googlers863224228
pharmgkbrs863224228
gwascentralrs863224228
openSNPrs863224228
23andMers863224228
23andMe allrs863224228
SNP Nexus

SNPshotrs863224228
SNPdbers863224228
MSV3drs863224228
GWAS Ctlgrs863224228
Max Magnitude0
ClinVar
Risk rs863224228(AT;AT)
Alt rs863224228(AT;AT)
Reference Rs863224228(TCTGCCAGCC;TCTGCCAGCC)
Significance Pathogenic
Disease not provided Leigh syndrome
Variation info
Gene SURF2 SURF1
CLNDBN not provided Leigh syndrome
Reversed 1
HGVS NC_000009.11:g.136221516_136221525delGGCTGGCAGAinsAT
CLNSRC
CLNACC RCV000197023.3, RCV000235063.1,