rs727503094
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GC;GC) | 0 | common in clinvar |
| (GCG;GCG) | 0 | common in clinvar |
| Make rs727503094(AA;AA) |
| Make rs727503094(AA;GC) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 534287 |
| Gene | HRAS, LRRC56 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727503094 |
| dbSNP (classic) | rs727503094 |
| ClinGen | rs727503094 |
| ebi | rs727503094 |
| HLI | rs727503094 |
| Exac | rs727503094 |
| Gnomad | rs727503094 |
| Varsome | rs727503094 |
| LitVar | rs727503094 |
| Map | rs727503094 |
| PheGenI | rs727503094 |
| Biobank | rs727503094 |
| 1000 genomes | rs727503094 |
| hgdp | rs727503094 |
| ensembl | rs727503094 |
| geneview | rs727503094 |
| scholar | rs727503094 |
| rs727503094 | |
| pharmgkb | rs727503094 |
| gwascentral | rs727503094 |
| openSNP | rs727503094 |
| 23andMe | rs727503094 |
| SNPshot | rs727503094 |
| SNPdbe | rs727503094 |
| MSV3d | rs727503094 |
| GWAS Ctlg | rs727503094 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727503094(AA;AA) rs727503094(TA;TA) rs727503094(AT;AT) rs727503094(CT;CT) |
| Alt | rs727503094(AA;AA) rs727503094(TA;TA) rs727503094(AT;AT) rs727503094(CT;CT) |
| Reference | Rs727503094(GC;GC) |
| Significance | Pathogenic |
| Disease | not provided Rasopathy Costello syndrome |
| Variation | info |
| Gene | HRAS |
| CLNDBN | not provided Rasopathy Costello syndrome |
| Reversed | 1 |
| HGVS | NC_000011.9:g.534287_534288delGCinsAG; NC_000011.9:g.534287_534288delGCinsAT; NC_000011.9:g.534287_534288delGCinsTA; NC_000011.9:g.534287_534288delinsTT |
| CLNSRC | |
| CLNACC | RCV000157929.1, RCV000157925.1, RCV000322736.1, RCV000150836.1, RCV000255809.1, |
