rs121908436
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908436(C;T) |
Make rs121908436(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 115418358 |
Gene | TRPS1 |
is a | snp |
is | mentioned by |
dbSNP | rs121908436 |
dbSNP (classic) | rs121908436 |
ClinGen | rs121908436 |
ebi | rs121908436 |
HLI | rs121908436 |
Exac | rs121908436 |
Gnomad | rs121908436 |
Varsome | rs121908436 |
LitVar | rs121908436 |
Map | rs121908436 |
PheGenI | rs121908436 |
Biobank | rs121908436 |
1000 genomes | rs121908436 |
hgdp | rs121908436 |
ensembl | rs121908436 |
geneview | rs121908436 |
scholar | rs121908436 |
rs121908436 | |
pharmgkb | rs121908436 |
gwascentral | rs121908436 |
openSNP | rs121908436 |
23andMe | rs121908436 |
SNPshot | rs121908436 |
SNPdbe | rs121908436 |
MSV3d | rs121908436 |
GWAS Ctlg | rs121908436 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908436(T;T) |
Alt | rs121908436(T;T) |
Reference | Rs121908436(C;C) |
Significance | Pathogenic |
Disease | Trichorhinophalangeal syndrome type 3 |
Variation | info |
Gene | TRPS1 |
CLNDBN | Trichorhinophalangeal syndrome type 3 |
Reversed | 1 |
HGVS | NC_000008.10:g.116430586G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005920.2, |