rs869320666
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869320666(A;C) |
Make rs869320666(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101346683 |
Gene | TIMM8A |
is a | snp |
is | mentioned by |
dbSNP | rs869320666 |
dbSNP (classic) | rs869320666 |
ClinGen | rs869320666 |
ebi | rs869320666 |
HLI | rs869320666 |
Exac | rs869320666 |
Gnomad | rs869320666 |
Varsome | rs869320666 |
LitVar | rs869320666 |
Map | rs869320666 |
PheGenI | rs869320666 |
Biobank | rs869320666 |
1000 genomes | rs869320666 |
hgdp | rs869320666 |
ensembl | rs869320666 |
geneview | rs869320666 |
scholar | rs869320666 |
rs869320666 | |
pharmgkb | rs869320666 |
gwascentral | rs869320666 |
openSNP | rs869320666 |
23andMe | rs869320666 |
SNPshot | rs869320666 |
SNPdbe | rs869320666 |
MSV3d | rs869320666 |
GWAS Ctlg | rs869320666 |
Max Magnitude | 0 |
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, |