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rs869320667

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320667(-;-)
Make rs869320667(-;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101348538
GeneTIMM8A
is asnp
is mentioned by
dbSNPrs869320667
ebirs869320667
HLIrs869320667
Exacrs869320667
Varsomers869320667
Maprs869320667
PheGenIrs869320667
hapmaprs869320667
1000 genomesrs869320667
hgdprs869320667
ensemblrs869320667
gopubmedrs869320667
geneviewrs869320667
scholarrs869320667
googlers869320667
pharmgkbrs869320667
gwascentralrs869320667
openSNPrs869320667
23andMers869320667
23andMe allrs869320667
SNP Nexus

SNPshotrs869320667
SNPdbers869320667
MSV3drs869320667
GWAS Ctlgrs869320667
Max Magnitude0
ClinVar
Risk rs869320667(;)
Alt rs869320667(;)
Reference rs869320667(T;T)
Significance Pathogenic
Disease Mohr-Tranebjaerg syndrome
Variation info
Gene TIMM8A
CLNDBN Mohr-Tranebjaerg syndrome
Reversed 1
HGVS NC_000023.10:g.100603526delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012078.18,