rs4784319
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs4784319(A;T) |
Make rs4784319(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 53602021 |
Gene | RPGRIP1L |
is a | snp |
is | mentioned by |
dbSNP | rs4784319 |
dbSNP (classic) | rs4784319 |
ClinGen | rs4784319 |
ebi | rs4784319 |
HLI | rs4784319 |
Exac | rs4784319 |
Gnomad | rs4784319 |
Varsome | rs4784319 |
LitVar | rs4784319 |
Map | rs4784319 |
PheGenI | rs4784319 |
Biobank | rs4784319 |
1000 genomes | rs4784319 |
hgdp | rs4784319 |
ensembl | rs4784319 |
geneview | rs4784319 |
scholar | rs4784319 |
rs4784319 | |
pharmgkb | rs4784319 |
gwascentral | rs4784319 |
openSNP | rs4784319 |
23andMe | rs4784319 |
SNPshot | rs4784319 |
SNPdbe | rs4784319 |
MSV3d | rs4784319 |
GWAS Ctlg | rs4784319 |
GMAF | 0.4325 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
[PMID 20512162] The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels
ClinVar | |
---|---|
Risk | rs4784319(T;T) |
Alt | rs4784319(T;T) |
Reference | Rs4784319(A;A) |
Significance | Probable-non-pathogenic |
Disease | Joubert syndrome Meckel-Gruber syndrome Nephronophthisis |
Variation | info |
Gene | RPGRIP1L |
CLNDBN | Joubert syndrome Meckel-Gruber syndrome Nephronophthisis |
Reversed | 0 |
HGVS | NC_000016.9:g.53635933A>T |
CLNSRC | |
CLNACC | RCV000312663.1, RCV000367605.1, RCV000393136.1, |