rs786205257
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786205257(A;G) |
Make rs786205257(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 17721439 |
Gene | NHS |
is a | snp |
is | mentioned by |
dbSNP | rs786205257 |
dbSNP (classic) | rs786205257 |
ClinGen | rs786205257 |
ebi | rs786205257 |
HLI | rs786205257 |
Exac | rs786205257 |
Gnomad | rs786205257 |
Varsome | rs786205257 |
LitVar | rs786205257 |
Map | rs786205257 |
PheGenI | rs786205257 |
Biobank | rs786205257 |
1000 genomes | rs786205257 |
hgdp | rs786205257 |
ensembl | rs786205257 |
geneview | rs786205257 |
scholar | rs786205257 |
rs786205257 | |
pharmgkb | rs786205257 |
gwascentral | rs786205257 |
openSNP | rs786205257 |
23andMe | rs786205257 |
SNPshot | rs786205257 |
SNPdbe | rs786205257 |
MSV3d | rs786205257 |
GWAS Ctlg | rs786205257 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205257(G;G) |
Alt | rs786205257(G;G) |
Reference | Rs786205257(A;A) |
Significance | Pathogenic |
Disease | Nance-Horan syndrome |
Variation | info |
Gene | NHS |
CLNDBN | Nance-Horan syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.17739559A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011775.10, |