rs786205677
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205677(-;-) |
Make rs786205677(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 17692468 |
Gene | NHS |
is a | snp |
is | mentioned by |
dbSNP | rs786205677 |
dbSNP (classic) | rs786205677 |
ClinGen | rs786205677 |
ebi | rs786205677 |
HLI | rs786205677 |
Exac | rs786205677 |
Gnomad | rs786205677 |
Varsome | rs786205677 |
LitVar | rs786205677 |
Map | rs786205677 |
PheGenI | rs786205677 |
Biobank | rs786205677 |
1000 genomes | rs786205677 |
hgdp | rs786205677 |
ensembl | rs786205677 |
geneview | rs786205677 |
scholar | rs786205677 |
rs786205677 | |
pharmgkb | rs786205677 |
gwascentral | rs786205677 |
openSNP | rs786205677 |
23andMe | rs786205677 |
SNPshot | rs786205677 |
SNPdbe | rs786205677 |
MSV3d | rs786205677 |
GWAS Ctlg | rs786205677 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205677(-;-) |
Alt | rs786205677(-;-) |
Reference | Rs786205677(G;G) |
Significance | Pathogenic |
Disease | Nance-Horan syndrome |
Variation | info |
Gene | NHS |
CLNDBN | Nance-Horan syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.17710588delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170469.3, |