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rs869320733

From SNPedia

Orientationminus
Geno Mag Summary
(AAGCCTGGGC;AAGCCTGGGC) 0 common in clinvar
Make rs869320733(-;-)
Make rs869320733(-;AAGCCTGGGC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101346636
GeneTIMM8A
is asnp
is mentioned by
dbSNPrs869320733
ebirs869320733
HLIrs869320733
Exacrs869320733
Varsomers869320733
Maprs869320733
PheGenIrs869320733
hapmaprs869320733
1000 genomesrs869320733
hgdprs869320733
ensemblrs869320733
gopubmedrs869320733
geneviewrs869320733
scholarrs869320733
googlers869320733
pharmgkbrs869320733
gwascentralrs869320733
openSNPrs869320733
23andMers869320733
23andMe allrs869320733
SNP Nexus

SNPshotrs869320733
SNPdbers869320733
MSV3drs869320733
GWAS Ctlgrs869320733
Max Magnitude0
ClinVar
Risk rs869320733(;)
Alt rs869320733(;)
Reference rs869320733(AAGCCTGGGC;AAGCCTGGGC)
Significance Pathogenic
Disease Mohr-Tranebjaerg syndrome
Variation info
Gene TIMM8A
CLNDBN Mohr-Tranebjaerg syndrome
Reversed 1
HGVS NC_000023.10:g.100601624_100601633delGCCCAGGCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000012071.3,