rs770771757
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs770771757(-;GT) |
Make rs770771757(GT;GT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 17687894 |
Gene | NHS |
is a | snp |
is | mentioned by |
dbSNP | rs770771757 |
dbSNP (classic) | rs770771757 |
ClinGen | rs770771757 |
ebi | rs770771757 |
HLI | rs770771757 |
Exac | rs770771757 |
Gnomad | rs770771757 |
Varsome | rs770771757 |
LitVar | rs770771757 |
Map | rs770771757 |
PheGenI | rs770771757 |
Biobank | rs770771757 |
1000 genomes | rs770771757 |
hgdp | rs770771757 |
ensembl | rs770771757 |
geneview | rs770771757 |
scholar | rs770771757 |
rs770771757 | |
pharmgkb | rs770771757 |
gwascentral | rs770771757 |
openSNP | rs770771757 |
23andMe | rs770771757 |
SNPshot | rs770771757 |
SNPdbe | rs770771757 |
MSV3d | rs770771757 |
GWAS Ctlg | rs770771757 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs770771757(G;G) rs770771757(GT;GT) |
Alt | Rs770771757(G;G) rs770771757(GT;GT) |
Reference | Rs770771757(-;-) |
Significance | Pathogenic |
Disease | Nance-Horan syndrome |
Variation | info |
Gene | NHS |
CLNDBN | Nance-Horan syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.17706014dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011773.7, |