rs7764472
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs7764472(C;C) |
Make rs7764472(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 35511797 |
Gene | TULP1 |
is a | snp |
is | mentioned by |
dbSNP | rs7764472 |
dbSNP (classic) | rs7764472 |
ClinGen | rs7764472 |
ebi | rs7764472 |
HLI | rs7764472 |
Exac | rs7764472 |
Gnomad | rs7764472 |
Varsome | rs7764472 |
LitVar | rs7764472 |
Map | rs7764472 |
PheGenI | rs7764472 |
Biobank | rs7764472 |
1000 genomes | rs7764472 |
hgdp | rs7764472 |
ensembl | rs7764472 |
geneview | rs7764472 |
scholar | rs7764472 |
rs7764472 | |
pharmgkb | rs7764472 |
gwascentral | rs7764472 |
openSNP | rs7764472 |
23andMe | rs7764472 |
SNPshot | rs7764472 |
SNPdbe | rs7764472 |
MSV3d | rs7764472 |
GWAS Ctlg | rs7764472 |
GMAF | 0.1129 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs7764472(C;C) rs7764472(T;T) |
Alt | rs7764472(C;C) rs7764472(T;T) |
Reference | Rs7764472(G;G) |
Significance | Non-pathogenic |
Disease | Retinitis Pigmentosa not specified Leber congenital amaurosis |
Variation | info |
Gene | TULP1 |
CLNDBN | Retinitis Pigmentosa, Recessive not specified Leber congenital amaurosis |
Reversed | 0 |
HGVS | NC_000006.11:g.35479574G>C |
CLNSRC | |
CLNACC | RCV000296887.1, RCV000332978.1, RCV000398291.1, |
[PMID 19339744] Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.