Rs1061517

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Orientationplus
is asnp
is mentioned by
dbSNPrs1061517
PheGenIrs1061517
nextbiors1061517
hapmaprs1061517
1000 genomesrs1061517
hgdprs1061517
ensemblrs1061517
gopubmedrs1061517
geneviewrs1061517
scholarrs1061517
googlers1061517
pharmgkbrs1061517
gwascentralrs1061517
openSNPrs1061517
23andMers1061517
23andMe allrs1061517
SNP Nexus

SNPshotrs1061517
SNPdbers1061517
MSV3drs1061517
GeneCCDC127, SDHA
Chromosome5
Orientationplus
Position218356
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0 Observed in a family trio, seems harmless
Make rs1061517(A;G)
OMIM600857
Desc
Variant0003
Relatedalso


ClinVar
Risk rs1061517(C,G;C,G)
Alt rs1061517(C,G;C,G)
Reference rs1061517(A;A)
Significance 5
Disease Leigh syndrome due to mitochondrial complex II deficiency
ClinVar info, info
Gene CCDC127, SDHA
CLNDBN Leigh syndrome due to mitochondrial complex II deficiency
Reversed 0
CLNHGVS NC_000005.9:g.218471A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009283.2