rs544436734
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs544436734(A;G) |
Make rs544436734(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 94578130 |
Gene | TGDS |
is a | snp |
is | mentioned by |
dbSNP | rs544436734 |
dbSNP (classic) | rs544436734 |
ClinGen | rs544436734 |
ebi | rs544436734 |
HLI | rs544436734 |
Exac | rs544436734 |
Gnomad | rs544436734 |
Varsome | rs544436734 |
LitVar | rs544436734 |
Map | rs544436734 |
PheGenI | rs544436734 |
Biobank | rs544436734 |
1000 genomes | rs544436734 |
hgdp | rs544436734 |
ensembl | rs544436734 |
geneview | rs544436734 |
scholar | rs544436734 |
rs544436734 | |
pharmgkb | rs544436734 |
gwascentral | rs544436734 |
openSNP | rs544436734 |
23andMe | rs544436734 |
SNPshot | rs544436734 |
SNPdbe | rs544436734 |
MSV3d | rs544436734 |
GWAS Ctlg | rs544436734 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs544436734(G;G) |
Alt | rs544436734(G;G) |
Reference | Rs544436734(A;A) |
Significance | Pathogenic |
Disease | Catel Manzke syndrome |
Variation | info |
Gene | TGDS |
CLNDBN | Catel Manzke syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.95230384A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000149818.4, |