Difference between revisions of "Rs104893843"
From SNPedia
OrientalBot (talk | contribs) (Set StabilizedOrientation) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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| Line 24: | Line 24: | ||
|REF=A | |REF=A | ||
|ALT=T | |ALT=T | ||
| − | |RSPOS= | + | |RSPOS=67754306 |
|CHROM=4 | |CHROM=4 | ||
|dbSNPBuildID=133 | |dbSNPBuildID=133 | ||
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050060000a05000002110100 |
|GENEINFO=GNRHR:2798 | |GENEINFO=GNRHR:2798 | ||
|GENE_NAME=GNRHR | |GENE_NAME=GNRHR | ||
|GENE_ID=2798 | |GENE_ID=2798 | ||
| − | |WGT= | + | |WGT=1 |
|VC=SNV | |VC=SNV | ||
|CLNALLE=1 | |CLNALLE=1 | ||
| − | |CLNHGVS=NC_000004. | + | |CLNHGVS=NC_000004.12:g.67754306A>T |
| − | |CLNSRC=OMIM Allelic Variant | + | |CLNSRC=ClinVar; OMIM Allelic Variant |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID=138850.0009; 138850.0013 | + | |CLNSRCID=NM_000406.2:c.30T>A; 138850.0009; 138850.0013 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C0271623 | |CLNCUI=C0271623 | ||
| Line 45: | Line 45: | ||
|Disease=HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA | |Disease=HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA | ||
|CLNACC=RCV000030915.26; RCV000030919.26 | |CLNACC=RCV000030915.26; RCV000030919.26 | ||
| − | |Tags=RV;PM; | + | |Tags=RV;PM;NSM;REF;ASP;LSD;OM |
| + | |CLNREVSTAT=single | ||
}} | }} | ||
Revision as of 20:18, 3 February 2015
| 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 WITHOUT ANOSMIA |
| Variation | info |
| Gene | GNRHR |
| CLNDBN | HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA |
| Reversed | 1 |
| HGVS | NC_000004.12:g.67754306A>T |
| CLNSRC | ClinVar OMIM Allelic Variant |
| CLNACC | RCV000030915.26, RCV000030919.26, |
