rs868944261
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs868944261(C;C) |
Make rs868944261(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 154420211 |
Gene | TAZ |
is a | snp |
is | mentioned by |
dbSNP | rs868944261 |
dbSNP (classic) | rs868944261 |
ClinGen | rs868944261 |
ebi | rs868944261 |
HLI | rs868944261 |
Exac | rs868944261 |
Gnomad | rs868944261 |
Varsome | rs868944261 |
LitVar | rs868944261 |
Map | rs868944261 |
PheGenI | rs868944261 |
Biobank | rs868944261 |
1000 genomes | rs868944261 |
hgdp | rs868944261 |
ensembl | rs868944261 |
geneview | rs868944261 |
scholar | rs868944261 |
rs868944261 | |
pharmgkb | rs868944261 |
gwascentral | rs868944261 |
openSNP | rs868944261 |
23andMe | rs868944261 |
SNPshot | rs868944261 |
SNPdbe | rs868944261 |
MSV3d | rs868944261 |
GWAS Ctlg | rs868944261 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs868944261(C;C) |
Alt | rs868944261(C;C) |
Reference | Rs868944261(G;G) |
Significance | Pathogenic |
Disease | 3-Methylglutaconic aciduria type 2 |
Variation | info |
Gene | TAZ |
CLNDBN | 3-Methylglutaconic aciduria type 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.153648550G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011861.2, |