rs869320667
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869320667(-;-) |
Make rs869320667(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101348538 |
Gene | TIMM8A |
is a | snp |
is | mentioned by |
dbSNP | rs869320667 |
dbSNP (classic) | rs869320667 |
ClinGen | rs869320667 |
ebi | rs869320667 |
HLI | rs869320667 |
Exac | rs869320667 |
Gnomad | rs869320667 |
Varsome | rs869320667 |
LitVar | rs869320667 |
Map | rs869320667 |
PheGenI | rs869320667 |
Biobank | rs869320667 |
1000 genomes | rs869320667 |
hgdp | rs869320667 |
ensembl | rs869320667 |
geneview | rs869320667 |
scholar | rs869320667 |
rs869320667 | |
pharmgkb | rs869320667 |
gwascentral | rs869320667 |
openSNP | rs869320667 |
23andMe | rs869320667 |
SNPshot | rs869320667 |
SNPdbe | rs869320667 |
MSV3d | rs869320667 |
GWAS Ctlg | rs869320667 |
Max Magnitude | 0 |
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, |