rs104893858
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104893858(A;C) |
Make rs104893858(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 110621214 |
Gene | PITX2 |
is a | snp |
is | mentioned by |
dbSNP | rs104893858 |
dbSNP (classic) | rs104893858 |
ClinGen | rs104893858 |
ebi | rs104893858 |
HLI | rs104893858 |
Exac | rs104893858 |
Gnomad | rs104893858 |
Varsome | rs104893858 |
LitVar | rs104893858 |
Map | rs104893858 |
PheGenI | rs104893858 |
Biobank | rs104893858 |
1000 genomes | rs104893858 |
hgdp | rs104893858 |
ensembl | rs104893858 |
geneview | rs104893858 |
scholar | rs104893858 |
rs104893858 | |
pharmgkb | rs104893858 |
gwascentral | rs104893858 |
openSNP | rs104893858 |
23andMe | rs104893858 |
SNPshot | rs104893858 |
SNPdbe | rs104893858 |
MSV3d | rs104893858 |
GWAS Ctlg | rs104893858 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893858(C;C) |
Alt | rs104893858(C;C) |
Reference | Rs104893858(A;A) |
Significance | Pathogenic |
Disease | Axenfeld-Rieger syndrome type 1 |
Variation | info |
Gene | PITX2 |
CLNDBN | Axenfeld-Rieger syndrome type 1 |
Reversed | 1 |
HGVS | NC_000004.11:g.111542370T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008553.3, |