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rs80356559

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356559(C;T)
Make rs80356559(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101348553
GeneTIMM8A
is asnp
is mentioned by
dbSNPrs80356559
ebirs80356559
HLIrs80356559
Exacrs80356559
Varsomers80356559
Maprs80356559
PheGenIrs80356559
hapmaprs80356559
1000 genomesrs80356559
hgdprs80356559
ensemblrs80356559
gopubmedrs80356559
geneviewrs80356559
scholarrs80356559
googlers80356559
pharmgkbrs80356559
gwascentralrs80356559
openSNPrs80356559
23andMers80356559
23andMe allrs80356559
SNP Nexus

SNPshotrs80356559
SNPdbers80356559
MSV3drs80356559
GWAS Ctlgrs80356559
Max Magnitude0
ClinVar
Risk rs80356559(T;T)
Alt rs80356559(T;T)
Reference rs80356559(C;C)
Significance Pathogenic
Disease Mohr-Tranebjaerg syndrome
Variation info
Gene TIMM8A
CLNDBN Mohr-Tranebjaerg syndrome
Reversed 1
HGVS NC_000023.10:g.100603541G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020579.1,


[PMID 17999202] Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.