Have questions? Visit https://www.reddit.com/r/SNPedia

rs869320665

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320665(-;-)
Make rs869320665(-;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101348592
GeneTIMM8A
is asnp
is mentioned by
dbSNPrs869320665
ebirs869320665
HLIrs869320665
Exacrs869320665
Varsomers869320665
Maprs869320665
PheGenIrs869320665
hapmaprs869320665
1000 genomesrs869320665
hgdprs869320665
ensemblrs869320665
gopubmedrs869320665
geneviewrs869320665
scholarrs869320665
googlers869320665
pharmgkbrs869320665
gwascentralrs869320665
openSNPrs869320665
23andMers869320665
23andMe allrs869320665
SNP Nexus

SNPshotrs869320665
SNPdbers869320665
MSV3drs869320665
GWAS Ctlgrs869320665
Max Magnitude0
ClinVar
Risk rs869320665(;)
Alt rs869320665(;)
Reference rs869320665(G;G)
Significance Pathogenic
Disease Mohr-Tranebjaerg syndrome
Variation info
Gene TIMM8A
CLNDBN Mohr-Tranebjaerg syndrome
Reversed 1
HGVS NC_000023.10:g.100603580delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012074.12,