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rs869320664

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320664(-;-)
Make rs869320664(-;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101348549
GeneTIMM8A
is asnp
is mentioned by
dbSNPrs869320664
ebirs869320664
HLIrs869320664
Exacrs869320664
Varsomers869320664
Maprs869320664
PheGenIrs869320664
hapmaprs869320664
1000 genomesrs869320664
hgdprs869320664
ensemblrs869320664
gopubmedrs869320664
geneviewrs869320664
scholarrs869320664
googlers869320664
pharmgkbrs869320664
gwascentralrs869320664
openSNPrs869320664
23andMers869320664
23andMe allrs869320664
SNP Nexus

SNPshotrs869320664
SNPdbers869320664
MSV3drs869320664
GWAS Ctlgrs869320664
Max Magnitude0
ClinVar
Risk rs869320664(;)
Alt rs869320664(;)
Reference rs869320664(T;T)
Significance Pathogenic
Disease Mohr-Tranebjaerg syndrome
Variation info
Gene TIMM8A
CLNDBN Mohr-Tranebjaerg syndrome
Reversed 1
HGVS NC_000023.10:g.100603537delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012070.18,