rs150212784
From SNPedia
Cystic Fibrosis related |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 3 | cystic fibrosis carrier (most likely) |
(T;T) | 0 | common in clinvar |
Make rs150212784(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117611595 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs150212784 |
dbSNP (classic) | rs150212784 |
ClinGen | rs150212784 |
ebi | rs150212784 |
HLI | rs150212784 |
Exac | rs150212784 |
Gnomad | rs150212784 |
Varsome | rs150212784 |
LitVar | rs150212784 |
Map | rs150212784 |
PheGenI | rs150212784 |
Biobank | rs150212784 |
1000 genomes | rs150212784 |
hgdp | rs150212784 |
ensembl | rs150212784 |
geneview | rs150212784 |
scholar | rs150212784 |
rs150212784 | |
pharmgkb | rs150212784 |
gwascentral | rs150212784 |
openSNP | rs150212784 |
23andMe | rs150212784 |
SNPshot | rs150212784 |
SNPdbe | rs150212784 |
MSV3d | rs150212784 |
GWAS Ctlg | rs150212784 |
Max Magnitude | 3 |
Cystic fibrosis; c.3154T>G, p.Phe1052Val; considered to be of varying clinical consequence
named i5011798 by 23andMe
ClinVar | |
---|---|
Risk | rs150212784(G;G) |
Alt | rs150212784(G;G) |
Reference | Rs150212784(T;T) |
Significance | Other |
Disease | Cystic fibrosis not provided |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.117251649T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000046799.4, RCV000224816.1, |