rs727504431
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504431(G;T) |
Make rs727504431(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154420212 |
Gene | TAZ |
is a | snp |
is | mentioned by |
dbSNP | rs727504431 |
dbSNP (classic) | rs727504431 |
ClinGen | rs727504431 |
ebi | rs727504431 |
HLI | rs727504431 |
Exac | rs727504431 |
Gnomad | rs727504431 |
Varsome | rs727504431 |
LitVar | rs727504431 |
Map | rs727504431 |
PheGenI | rs727504431 |
Biobank | rs727504431 |
1000 genomes | rs727504431 |
hgdp | rs727504431 |
ensembl | rs727504431 |
geneview | rs727504431 |
scholar | rs727504431 |
rs727504431 | |
pharmgkb | rs727504431 |
gwascentral | rs727504431 |
openSNP | rs727504431 |
23andMe | rs727504431 |
SNPshot | rs727504431 |
SNPdbe | rs727504431 |
MSV3d | rs727504431 |
GWAS Ctlg | rs727504431 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504431(T;T) |
Alt | rs727504431(T;T) |
Reference | Rs727504431(G;G) |
Significance | Probable-Pathogenic |
Disease | 3-Methylglutaconic aciduria type 2 |
Variation | info |
Gene | TAZ |
CLNDBN | 3-Methylglutaconic aciduria type 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.153648551G>T |
CLNSRC | |
CLNACC | RCV000154666.1, |