rs121908120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121908120(A;A) |
Make rs121908120(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 218890289 |
Gene | WNT10A |
is a | snp |
is | mentioned by |
dbSNP | rs121908120 |
dbSNP (classic) | rs121908120 |
ClinGen | rs121908120 |
ebi | rs121908120 |
HLI | rs121908120 |
Exac | rs121908120 |
Gnomad | rs121908120 |
Varsome | rs121908120 |
LitVar | rs121908120 |
Map | rs121908120 |
PheGenI | rs121908120 |
Biobank | rs121908120 |
1000 genomes | rs121908120 |
hgdp | rs121908120 |
ensembl | rs121908120 |
geneview | rs121908120 |
scholar | rs121908120 |
rs121908120 | |
pharmgkb | rs121908120 |
gwascentral | rs121908120 |
openSNP | rs121908120 |
23andMe | rs121908120 |
SNPshot | rs121908120 |
SNPdbe | rs121908120 |
MSV3d | rs121908120 |
GWAS Ctlg | rs121908120 |
GMAF | 0.009642 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908120(A;A) |
Alt | rs121908120(A;A) |
Reference | Rs121908120(T;T) |
Significance | Other |
Disease | Odontoonychodermal dysplasia not provided Schopf-Schulz-Passarge syndrome Selective tooth agenesis Tooth agenesis not specified |
Variation | info |
Gene | WNT10A |
CLNDBN | Odontoonychodermal dysplasia not provided Schopf-Schulz-Passarge syndrome Selective tooth agenesis Tooth agenesis, selective, 4 not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.219755011T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004717.5, RCV000255788.2, RCV000278695.1, RCV000373155.1, RCV000445356.1, RCV000455454.1, |
[PMID 26049155] WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness