rs786205255
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786205255(-;C) |
Make rs786205255(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 17726556 |
Gene | NHS |
is a | snp |
is | mentioned by |
dbSNP | rs786205255 |
dbSNP (classic) | rs786205255 |
ClinGen | rs786205255 |
ebi | rs786205255 |
HLI | rs786205255 |
Exac | rs786205255 |
Gnomad | rs786205255 |
Varsome | rs786205255 |
LitVar | rs786205255 |
Map | rs786205255 |
PheGenI | rs786205255 |
Biobank | rs786205255 |
1000 genomes | rs786205255 |
hgdp | rs786205255 |
ensembl | rs786205255 |
geneview | rs786205255 |
scholar | rs786205255 |
rs786205255 | |
pharmgkb | rs786205255 |
gwascentral | rs786205255 |
openSNP | rs786205255 |
23andMe | rs786205255 |
SNPshot | rs786205255 |
SNPdbe | rs786205255 |
MSV3d | rs786205255 |
GWAS Ctlg | rs786205255 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205255(C;C) |
Alt | rs786205255(C;C) |
Reference | Rs786205255(-;-) |
Significance | Pathogenic |
Disease | Nance-Horan syndrome |
Variation | info |
Gene | NHS |
CLNDBN | Nance-Horan syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.17744676dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011770.7, |