rs111534978
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111534978(C;T) |
Make rs111534978(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 17727793 |
Gene | NHS |
is a | snp |
is | mentioned by |
dbSNP | rs111534978 |
dbSNP (classic) | rs111534978 |
ClinGen | rs111534978 |
ebi | rs111534978 |
HLI | rs111534978 |
Exac | rs111534978 |
Gnomad | rs111534978 |
Varsome | rs111534978 |
LitVar | rs111534978 |
Map | rs111534978 |
PheGenI | rs111534978 |
Biobank | rs111534978 |
1000 genomes | rs111534978 |
hgdp | rs111534978 |
ensembl | rs111534978 |
geneview | rs111534978 |
scholar | rs111534978 |
rs111534978 | |
pharmgkb | rs111534978 |
gwascentral | rs111534978 |
openSNP | rs111534978 |
23andMe | rs111534978 |
SNPshot | rs111534978 |
SNPdbe | rs111534978 |
MSV3d | rs111534978 |
GWAS Ctlg | rs111534978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111534978(A;A) rs111534978(T;T) |
Alt | rs111534978(A;A) rs111534978(T;T) |
Reference | Rs111534978(C;C) |
Significance | Pathogenic |
Disease | Congenital cataract |
Variation | info |
Gene | NHS |
CLNDBN | Congenital cataract |
Reversed | 0 |
HGVS | NC_000023.10:g.17745913C>A |
CLNSRC | |
CLNACC | RCV000203345.1, |