rs398122851
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122851(-;-) |
Make rs398122851(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 110688710 |
Gene | CHRDL1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122851 |
dbSNP (classic) | rs398122851 |
ClinGen | rs398122851 |
ebi | rs398122851 |
HLI | rs398122851 |
Exac | rs398122851 |
Gnomad | rs398122851 |
Varsome | rs398122851 |
LitVar | rs398122851 |
Map | rs398122851 |
PheGenI | rs398122851 |
Biobank | rs398122851 |
1000 genomes | rs398122851 |
hgdp | rs398122851 |
ensembl | rs398122851 |
geneview | rs398122851 |
scholar | rs398122851 |
rs398122851 | |
pharmgkb | rs398122851 |
gwascentral | rs398122851 |
openSNP | rs398122851 |
23andMe | rs398122851 |
SNPshot | rs398122851 |
SNPdbe | rs398122851 |
MSV3d | rs398122851 |
GWAS Ctlg | rs398122851 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122851(-;-) |
Alt | rs398122851(-;-) |
Reference | Rs398122851(G;G) |
Significance | Pathogenic |
Disease | Megalocornea |
Variation | info |
Gene | CHRDL1 |
CLNDBN | Megalocornea |
Reversed | 1 |
HGVS | NC_000023.10:g.109931938delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022849.20, |