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rs869320666

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869320666(A;C)
Make rs869320666(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101346683
GeneTIMM8A
is asnp
is mentioned by
dbSNPrs869320666
ebirs869320666
HLIrs869320666
Exacrs869320666
Varsomers869320666
Maprs869320666
PheGenIrs869320666
hapmaprs869320666
1000 genomesrs869320666
hgdprs869320666
ensemblrs869320666
gopubmedrs869320666
geneviewrs869320666
scholarrs869320666
googlers869320666
pharmgkbrs869320666
gwascentralrs869320666
openSNPrs869320666
23andMers869320666
23andMe allrs869320666
SNP Nexus

SNPshotrs869320666
SNPdbers869320666
MSV3drs869320666
GWAS Ctlgrs869320666
Max Magnitude0
ClinVar
Risk rs869320666(C;C)
Alt rs869320666(C;C)
Reference rs869320666(A;A)
Significance Pathogenic
Disease Mohr-Tranebjaerg syndrome
Variation info
Gene TIMM8A
CLNDBN Mohr-Tranebjaerg syndrome
Reversed 1
HGVS NC_000023.10:g.100601671T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012077.3,