rs1057518701
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057518701(A;A) |
Make rs1057518701(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 640879 |
Gene | SHOX |
is a | snp |
is | mentioned by |
dbSNP | rs1057518701 |
dbSNP (classic) | rs1057518701 |
ClinGen | rs1057518701 |
ebi | rs1057518701 |
HLI | rs1057518701 |
Exac | rs1057518701 |
Gnomad | rs1057518701 |
Varsome | rs1057518701 |
LitVar | rs1057518701 |
Map | rs1057518701 |
PheGenI | rs1057518701 |
Biobank | rs1057518701 |
1000 genomes | rs1057518701 |
hgdp | rs1057518701 |
ensembl | rs1057518701 |
geneview | rs1057518701 |
scholar | rs1057518701 |
rs1057518701 | |
pharmgkb | rs1057518701 |
gwascentral | rs1057518701 |
openSNP | rs1057518701 |
23andMe | rs1057518701 |
SNPshot | rs1057518701 |
SNPdbe | rs1057518701 |
MSV3d | rs1057518701 |
GWAS Ctlg | rs1057518701 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518701(A;A) |
Alt | rs1057518701(A;A) |
Reference | Rs1057518701(G;G) |
Significance | Pathogenic |
Disease | Short stature |
Variation | info |
Gene | SHOX |
CLNDBN | Short stature, idiopathic, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.601614G>A |
CLNSRC | |
CLNACC | RCV000415164.1, |