rs122460154
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs122460154(C;C) |
Make rs122460154(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 2949425 |
Gene | ARSE |
is a | snp |
is | mentioned by |
dbSNP | rs122460154 |
dbSNP (classic) | rs122460154 |
ClinGen | rs122460154 |
ebi | rs122460154 |
HLI | rs122460154 |
Exac | rs122460154 |
Gnomad | rs122460154 |
Varsome | rs122460154 |
LitVar | rs122460154 |
Map | rs122460154 |
PheGenI | rs122460154 |
Biobank | rs122460154 |
1000 genomes | rs122460154 |
hgdp | rs122460154 |
ensembl | rs122460154 |
geneview | rs122460154 |
scholar | rs122460154 |
rs122460154 | |
pharmgkb | rs122460154 |
gwascentral | rs122460154 |
openSNP | rs122460154 |
23andMe | rs122460154 |
SNPshot | rs122460154 |
SNPdbe | rs122460154 |
MSV3d | rs122460154 |
GWAS Ctlg | rs122460154 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122460154(C;C) |
Alt | rs122460154(C;C) |
Reference | Rs122460154(G;G) |
Significance | Pathogenic |
Disease | Chondrodysplasia punctata 1 |
Variation | info |
Gene | ARSE |
CLNDBN | Chondrodysplasia punctata 1, X-linked recessive |
Reversed | 1 |
HGVS | NC_000023.10:g.2867466C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012282.12, |