rs11971167
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | carrier of cystic fibrosis allele |
| (G;G) | 0 | common in clinvar |
| Make rs11971167(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117642528 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11971167 |
| dbSNP (classic) | rs11971167 |
| ClinGen | rs11971167 |
| ebi | rs11971167 |
| HLI | rs11971167 |
| Exac | rs11971167 |
| Gnomad | rs11971167 |
| Varsome | rs11971167 |
| LitVar | rs11971167 |
| Map | rs11971167 |
| PheGenI | rs11971167 |
| Biobank | rs11971167 |
| 1000 genomes | rs11971167 |
| hgdp | rs11971167 |
| ensembl | rs11971167 |
| geneview | rs11971167 |
| scholar | rs11971167 |
| rs11971167 | |
| pharmgkb | rs11971167 |
| gwascentral | rs11971167 |
| openSNP | rs11971167 |
| 23andMe | rs11971167 |
| SNPshot | rs11971167 |
| SNPdbe | rs11971167 |
| MSV3d | rs11971167 |
| GWAS Ctlg | rs11971167 |
| GMAF | 0.003673 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3808G>A, p.Asp1270Asn; of varying clinical consequence according to CFTR2 database
named i5012029 by 23andMe
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs11971167(A;A) rs11971167(T;T) |
| Alt | rs11971167(A;A) rs11971167(T;T) |
| Reference | Rs11971167(G;G) |
| Significance | Other |
| Disease | Congenital bilateral absence of the vas deferens Cystic fibrosis Hereditary pancreatitis not specified |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Congenital bilateral absence of the vas deferens Cystic fibrosis Hereditary pancreatitis not specified |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117282582G>A; NC_000007.13:g.117282582G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007584.2, RCV000046985.4, RCV000176372.1, RCV000480239.1, RCV000046986.2, |
[PMID 18716917
] A novel computational and structural analysis of nsSNPs in CFTR gene.
