Difference between revisions of "Rs104893843"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
OrientalBot (talk | contribs) (Set on chip ancestryv2) |
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| (12 intermediate revisions by 3 users not shown) | |||
| Line 7: | Line 7: | ||
|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 | ||
| + | |StabilizedOrientation=minus | ||
}}{{omim | }}{{omim | ||
|id=138850 | |id=138850 | ||
| Line 27: | Line 29: | ||
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050068000a05040002110100 |
|GENEINFO=GNRHR:2798 | |GENEINFO=GNRHR:2798 | ||
|GENE_NAME=GNRHR | |GENE_NAME=GNRHR | ||
| Line 35: | Line 37: | ||
|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; UniProtKB (protein) |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID=138850.0009; 138850.0013 | + | |CLNSRCID=138850.0009; 138850.0013; P30968#VAR_019311 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C0271623 | |CLNCUI=C0271623 | ||
| − | |CLNDBN= | + | |CLNDBN=Hypogonadotropic hypogonadism 7 with or without anosmia; Isolated GnRH Deficiency |
| − | |Disease= | + | |Disease=Hypogonadotropic hypogonadism 7 with or without anosmia; Isolated GnRH Deficiency |
| − | |CLNACC=RCV000030915. | + | |CLNACC=RCV000030915.29; RCV000375229.1 |
| − | |Tags=RV;PM;NSM;REF; | + | |Tags=RV;PM;PMC;NSM;REF;ASP;VLD;LSD;OM |
| − | |CLNDSDB= | + | |CLNREVSTAT=no_criteria; single |
| − | |CLNDSDBID= | + | |CLNDSDB=MedGen:OMIM:SNOMED_CT; MedGen |
| + | |CLNDSDBID=C0271623:146110:33927004; CN239347 | ||
}} | }} | ||
| + | |||
| + | {{on chip | Ancestry v2}} | ||
| + | {{on chip | Ancestry v2c}} | ||
| + | {{on chip | Ancestry v2d}} | ||
Latest revision as of 19:30, 6 December 2019
| Orientation | minus |
| Stabilized | 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 with or without anosmia Isolated GnRH Deficiency |
| Variation | info |
| Gene | GNRHR |
| CLNDBN | Hypogonadotropic hypogonadism 7 with or without anosmia Isolated GnRH Deficiency |
| Reversed | 1 |
| HGVS | NC_000004.11:g.68620024A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000030915.29, RCV000375229.1, |
