ANOS1 Chromosome X
Anosmin 1
Upload your DNA to see your personal genotypes for variants in ANOS1.
What This Gene Does
Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WAP four-disulfide core domain containing|Fibronectin type III domain containing"
Locus Type
gene with protein product
Location
Xp22.31
Ensembl
ENSG00000011201
Associated Conditions (10)
Hypogonadotropic hypogonadism 1 with or without anosmia
Inborn genetic diseases
Micropenis
ANOS1-related disorder
Amenorrhea
Hypogonadotropic hypogonadism
See cases
Martsolf syndrome 1
Delayed puberty
Hypogonadotropic hypogonadism 7 with or without anosmia
Key Variants
RS1043292415
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
RS137852517
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
RS137879324
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases
Health Risk
RS142455173
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
RS144709908
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
RS1449749900
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
RS1930749813
Conflicting classifications of pathogenicity
Micropenis, ANOS1-related disorder, Micropenis
Health Risk
RS199771303
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Amenorrhea, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
RS201842998
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
RS2146807050
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
RS2229013
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
RS753666778
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 1 with or without anosmia
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2146785809 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146786648 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146786666 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146796828 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146805381 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146817110 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146817170 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146819139 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146819334 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146919105 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146919128 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146919315 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2146919339 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2518440963 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2518467155 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2518468186 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2518482190 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2518492759 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2518492806 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2518492977 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS2518492991 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS371599938 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS387906427 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS397518425 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS606231409 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, ANOS1-related disorder, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS747010865 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS886039395 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia, Martsolf syndrome 1, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS727505374 | Health Risk | Pathogenic/Likely pathogenic | Delayed puberty, Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |