rs199946685
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
(T;T) | 0 | common in clinvar |
Make rs199946685(-;TGT) |
Make rs199946685(TGT;TGT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 624389 |
Gene | SHOX |
is a | snp |
is | mentioned by |
dbSNP | rs199946685 |
dbSNP (classic) | rs199946685 |
ClinGen | rs199946685 |
ebi | rs199946685 |
HLI | rs199946685 |
Exac | rs199946685 |
Gnomad | rs199946685 |
Varsome | rs199946685 |
LitVar | rs199946685 |
Map | rs199946685 |
PheGenI | rs199946685 |
Biobank | rs199946685 |
1000 genomes | rs199946685 |
hgdp | rs199946685 |
ensembl | rs199946685 |
geneview | rs199946685 |
scholar | rs199946685 |
rs199946685 | |
pharmgkb | rs199946685 |
gwascentral | rs199946685 |
openSNP | rs199946685 |
23andMe | rs199946685 |
SNPshot | rs199946685 |
SNPdbe | rs199946685 |
MSV3d | rs199946685 |
GWAS Ctlg | rs199946685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199946685(G;G) rs199946685(TGT;TGT) |
Alt | rs199946685(G;G) rs199946685(TGT;TGT) |
Reference | Rs199946685(-;-) |
Significance | Pathogenic |
Disease | Short stature |
Variation | info |
Gene | SHOX |
CLNDBN | Short stature, idiopathic, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.585124_585125insTGT |
CLNSRC | |
CLNACC | RCV000190325.1, |