rs104894911
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104894911(C;C) |
Make rs104894911(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 41473755 |
Gene | NYX |
is a | snp |
is | mentioned by |
dbSNP | rs104894911 |
dbSNP (classic) | rs104894911 |
ClinGen | rs104894911 |
ebi | rs104894911 |
HLI | rs104894911 |
Exac | rs104894911 |
Gnomad | rs104894911 |
Varsome | rs104894911 |
LitVar | rs104894911 |
Map | rs104894911 |
PheGenI | rs104894911 |
Biobank | rs104894911 |
1000 genomes | rs104894911 |
hgdp | rs104894911 |
ensembl | rs104894911 |
geneview | rs104894911 |
scholar | rs104894911 |
rs104894911 | |
pharmgkb | rs104894911 |
gwascentral | rs104894911 |
openSNP | rs104894911 |
23andMe | rs104894911 |
SNPshot | rs104894911 |
SNPdbe | rs104894911 |
MSV3d | rs104894911 |
GWAS Ctlg | rs104894911 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894911(C;C) |
Alt | rs104894911(C;C) |
Reference | Rs104894911(T;T) |
Significance | Pathogenic |
Disease | Congenital stationary night blindness |
Variation | info |
Gene | NYX |
CLNDBN | Congenital stationary night blindness, type 1A |
Reversed | 0 |
HGVS | NC_000023.10:g.41333008T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012178.2, |