rs121917851
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121917851(C;T) |
Make rs121917851(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 63066056 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs121917851 |
dbSNP (classic) | rs121917851 |
ClinGen | rs121917851 |
ebi | rs121917851 |
HLI | rs121917851 |
Exac | rs121917851 |
Gnomad | rs121917851 |
Varsome | rs121917851 |
LitVar | rs121917851 |
Map | rs121917851 |
PheGenI | rs121917851 |
Biobank | rs121917851 |
1000 genomes | rs121917851 |
hgdp | rs121917851 |
ensembl | rs121917851 |
geneview | rs121917851 |
scholar | rs121917851 |
rs121917851 | |
pharmgkb | rs121917851 |
gwascentral | rs121917851 |
openSNP | rs121917851 |
23andMe | rs121917851 |
SNPshot | rs121917851 |
SNPdbe | rs121917851 |
MSV3d | rs121917851 |
GWAS Ctlg | rs121917851 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917851(T;T) |
Alt | rs121917851(T;T) |
Reference | Rs121917851(C;C) |
Significance | Other |
Disease | Ataxia Ataxia with vitamin E deficiency |
Variation | info |
Gene | TTPA |
CLNDBN | Ataxia, Friedreich-like, with isolated vitamin E deficiency Ataxia with vitamin E deficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.63978615G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009712.3, RCV000055797.3, |