rs751218423
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs751218423(C;T) |
Make rs751218423(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 3523261 |
Gene | CLUAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs751218423 |
dbSNP (classic) | rs751218423 |
ClinGen | rs751218423 |
ebi | rs751218423 |
HLI | rs751218423 |
Exac | rs751218423 |
Gnomad | rs751218423 |
Varsome | rs751218423 |
LitVar | rs751218423 |
Map | rs751218423 |
PheGenI | rs751218423 |
Biobank | rs751218423 |
1000 genomes | rs751218423 |
hgdp | rs751218423 |
ensembl | rs751218423 |
geneview | rs751218423 |
scholar | rs751218423 |
rs751218423 | |
pharmgkb | rs751218423 |
gwascentral | rs751218423 |
openSNP | rs751218423 |
23andMe | rs751218423 |
SNPshot | rs751218423 |
SNPdbe | rs751218423 |
MSV3d | rs751218423 |
GWAS Ctlg | rs751218423 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751218423(T;T) |
Alt | rs751218423(T;T) |
Reference | Rs751218423(C;C) |
Significance | Pathogenic |
Disease | Oculoectodermal syndrome Leber congenital amaurosis |
Variation | info |
Gene | CLUAP1 |
CLNDBN | Oculoectodermal syndrome Leber congenital amaurosis |
Reversed | 0 |
HGVS | NC_000016.9:g.3573261C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210001.3, RCV000210897.1, |