rs2229013
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs2229013(A;A) |
| Make rs2229013(A;G) |
| Make rs2229013(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 8535755 |
| Gene | ANOS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2229013 |
| dbSNP (classic) | rs2229013 |
| ClinGen | rs2229013 |
| ebi | rs2229013 |
| HLI | rs2229013 |
| Exac | rs2229013 |
| Gnomad | rs2229013 |
| Varsome | rs2229013 |
| LitVar | rs2229013 |
| Map | rs2229013 |
| PheGenI | rs2229013 |
| Biobank | rs2229013 |
| 1000 genomes | rs2229013 |
| hgdp | rs2229013 |
| ensembl | rs2229013 |
| geneview | rs2229013 |
| scholar | rs2229013 |
| rs2229013 | |
| pharmgkb | rs2229013 |
| gwascentral | rs2229013 |
| openSNP | rs2229013 |
| 23andMe | rs2229013 |
| SNPshot | rs2229013 |
| SNPdbe | rs2229013 |
| MSV3d | rs2229013 |
| GWAS Ctlg | rs2229013 |
| Max Magnitude | 0 |
[PMID 23410897] The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome
| ClinVar | |
|---|---|
| Risk | rs2229013(A;A) rs2229013(T;T) |
| Alt | rs2229013(A;A) rs2229013(T;T) |
| Reference | rs2229013(G;G) |
| Significance | Unknown |
| Disease | Kallmann syndrome 1 |
| Variation | info |
| Gene | ANOS1 |
| CLNDBN | Kallmann syndrome 1 |
| Reversed | 1 |
| HGVS | NC_000023.10:g.8503796C>T |
| CLNSRC | |
| CLNACC | RCV000490378.1, |
