rs748164236
From SNPedia
Merged into | rs397515378 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs748164236(-;-) |
Make rs748164236(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 63065969 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs748164236 |
dbSNP (classic) | rs748164236 |
ClinGen | rs748164236 |
ebi | rs748164236 |
HLI | rs748164236 |
Exac | rs748164236 |
Gnomad | rs748164236 |
Varsome | rs748164236 |
LitVar | rs748164236 |
Map | rs748164236 |
PheGenI | rs748164236 |
Biobank | rs748164236 |
1000 genomes | rs748164236 |
hgdp | rs748164236 |
ensembl | rs748164236 |
geneview | rs748164236 |
scholar | rs748164236 |
rs748164236 | |
pharmgkb | rs748164236 |
gwascentral | rs748164236 |
openSNP | rs748164236 |
23andMe | rs748164236 |
SNPshot | rs748164236 |
SNPdbe | rs748164236 |
MSV3d | rs748164236 |
GWAS Ctlg | rs748164236 |
Status | Merged into rs397515378 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs748164236(A;A) |
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 | 0 |
HGVS | NC_000008.10:g.63978528delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009709.2, RCV000169325.1, |