rs201213306
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201213306(A;A) |
Make rs201213306(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 165752166 |
Gene | TMCO1 |
is a | snp |
is | mentioned by |
dbSNP | rs201213306 |
dbSNP (classic) | rs201213306 |
ClinGen | rs201213306 |
ebi | rs201213306 |
HLI | rs201213306 |
Exac | rs201213306 |
Gnomad | rs201213306 |
Varsome | rs201213306 |
LitVar | rs201213306 |
Map | rs201213306 |
PheGenI | rs201213306 |
Biobank | rs201213306 |
1000 genomes | rs201213306 |
hgdp | rs201213306 |
ensembl | rs201213306 |
geneview | rs201213306 |
scholar | rs201213306 |
rs201213306 | |
pharmgkb | rs201213306 |
gwascentral | rs201213306 |
openSNP | rs201213306 |
23andMe | rs201213306 |
SNPshot | rs201213306 |
SNPdbe | rs201213306 |
MSV3d | rs201213306 |
GWAS Ctlg | rs201213306 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201213306(A;A) |
Alt | rs201213306(A;A) |
Reference | Rs201213306(G;G) |
Significance | Pathogenic |
Disease | Craniofacial dysmorphism |
Variation | info |
Gene | TMCO1 |
CLNDBN | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.165721403G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074398.3, |