rs70961704
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs70961704(A;A) |
| Make rs70961704(A;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 12 |
| Position | 102402244 |
| Gene | IGF1, LOC105369942 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs70961704 |
| dbSNP (classic) | rs70961704 |
| ClinGen | rs70961704 |
| ebi | rs70961704 |
| HLI | rs70961704 |
| Exac | rs70961704 |
| Gnomad | rs70961704 |
| Varsome | rs70961704 |
| LitVar | rs70961704 |
| Map | rs70961704 |
| PheGenI | rs70961704 |
| Biobank | rs70961704 |
| 1000 genomes | rs70961704 |
| hgdp | rs70961704 |
| ensembl | rs70961704 |
| geneview | rs70961704 |
| scholar | rs70961704 |
| rs70961704 | |
| pharmgkb | rs70961704 |
| gwascentral | rs70961704 |
| openSNP | rs70961704 |
| 23andMe | rs70961704 |
| SNPshot | rs70961704 |
| SNPdbe | rs70961704 |
| MSV3d | rs70961704 |
| GWAS Ctlg | rs70961704 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs70961704(A;A) |
| Alt | rs70961704(A;A) |
| Reference | Rs70961704(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | Insulin-like growth factor I deficiency not specified |
| Variation | info |
| Gene | IGF1 |
| CLNDBN | Insulin-like growth factor I deficiency not specified |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102796022A>T |
| CLNSRC | Illumina |
| CLNACC | RCV000263592.1, RCV000455458.1, |
