rs374390376
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs374390376(C;C) |
Make rs374390376(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 150972617 |
Gene | CLRN1, CLRN1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs374390376 |
dbSNP (classic) | rs374390376 |
ClinGen | rs374390376 |
ebi | rs374390376 |
HLI | rs374390376 |
Exac | rs374390376 |
Gnomad | rs374390376 |
Varsome | rs374390376 |
LitVar | rs374390376 |
Map | rs374390376 |
PheGenI | rs374390376 |
Biobank | rs374390376 |
1000 genomes | rs374390376 |
hgdp | rs374390376 |
ensembl | rs374390376 |
geneview | rs374390376 |
scholar | rs374390376 |
rs374390376 | |
pharmgkb | rs374390376 |
gwascentral | rs374390376 |
openSNP | rs374390376 |
23andMe | rs374390376 |
SNPshot | rs374390376 |
SNPdbe | rs374390376 |
MSV3d | rs374390376 |
GWAS Ctlg | rs374390376 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374390376(A;A) rs374390376(C;C) |
Alt | rs374390376(A;A) rs374390376(C;C) |
Reference | Rs374390376(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 61 |
Variation | info |
Gene | CLRN1-AS1 CLRN1 |
CLNDBN | Retinitis pigmentosa 61 |
Reversed | 0 |
HGVS | NC_000003.11:g.150690404G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023538.2, |