Difference between revisions of "Rs104893843"
From SNPedia
SNPediaBot (talk | contribs) m (added ClinVar data) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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| Line 24: | Line 24: | ||
|RSPOS=68620024 | |RSPOS=68620024 | ||
|CHROM=4 | |CHROM=4 | ||
| − | |dbSNPBuildID= | + | |dbSNPBuildID=133 |
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050060000a01000002110100 |
|GENEINFO=GNRHR:2798 | |GENEINFO=GNRHR:2798 | ||
|GENE_NAME=GNRHR | |GENE_NAME=GNRHR | ||
| Line 35: | Line 35: | ||
|CLNALLE=1 | |CLNALLE=1 | ||
|CLNHGVS=NC_000004.11:g.68620024A>T | |CLNHGVS=NC_000004.11:g.68620024A>T | ||
| − | |CLNSRC=OMIM Allelic Variant | + | |CLNSRC=OMIM Allelic Variant; OMIM Allelic Variant |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID=138850.0009 | + | |CLNSRCID=138850.0009; 138850.0013 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C0271623 | |CLNCUI=C0271623 | ||
| − | |CLNDBN= | + | |CLNDBN=HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA |
| − | |Disease= | + | |Disease=HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA |
| − | |CLNACC= | + | |CLNACC=RCV000030915.1; RCV000030919.1 |
|Tags=RV;PM;NSM;REF;OTHERKG;LSD;OM | |Tags=RV;PM;NSM;REF;OTHERKG;LSD;OM | ||
| + | |CLNDSDB=.; . | ||
| + | |CLNDSDBID=.; . | ||
}} | }} | ||
Revision as of 19:11, 24 August 2013
| Orientation | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs104893843(A;A) |
| Make rs104893843(A;T) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 4 |
| Position | 68620024 |
| 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 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 OMIM Allelic Variant |
| CLNACC | RCV000030915.1, RCV000030919.1, |
