Difference between revisions of "Rs104893843"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
JlickBot38 (talk | contribs) m (Update Rsnum - Set: Gene_s Change: position Assembly GenomeBuild dbSNPBuild) |
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|geno3=(T;T) | |geno3=(T;T) | ||
|Gene=GNRHR | |Gene=GNRHR | ||
| − | |position= | + | |position=67754306 |
| − | |Assembly= | + | |Assembly=GRCh38 |
| − | |GenomeBuild= | + | |GenomeBuild=38.1 |
| − | |dbSNPBuild= | + | |dbSNPBuild=141 |
| + | |Gene_s=GNRHR | ||
}}{{omim | }}{{omim | ||
|id=138850 | |id=138850 | ||
Revision as of 04:52, 2 June 2014
| Orientation | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs104893843(A;A) |
| Make rs104893843(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 67754306 |
| Gene | GNRHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104893843 |
| dbSNP (classic) | rs104893843 |
| ClinGen | rs104893843 |
| ebi | rs104893843 |
| HLI | rs104893843 |
| Exac | rs104893843 |
| Gnomad | rs104893843 |
| Varsome | rs104893843 |
| LitVar | rs104893843 |
| Map | rs104893843 |
| PheGenI | rs104893843 |
| Biobank | rs104893843 |
| 1000 genomes | rs104893843 |
| hgdp | rs104893843 |
| ensembl | rs104893843 |
| geneview | rs104893843 |
| scholar | rs104893843 |
| rs104893843 | |
| pharmgkb | rs104893843 |
| gwascentral | rs104893843 |
| openSNP | rs104893843 |
| 23andMe | rs104893843 |
| SNPshot | rs104893843 |
| SNPdbe | rs104893843 |
| MSV3d | rs104893843 |
| GWAS Ctlg | rs104893843 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104893843(A;A) |
| Alt | rs104893843(A;A) |
| Reference | Rs104893843(T;T) |
| Significance | Pathogenic |
| Disease | HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA |
| Variation | info |
| Gene | GNRHR |
| CLNDBN | HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA |
| Reversed | 1 |
| HGVS | NC_000004.11:g.68620024A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000030915.26, RCV000030919.26, |
