rs121909186
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(ACG;ACG) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs121909186(-;A) |
Make rs121909186(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 19117013 |
Gene | TWIST1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909186 |
dbSNP (classic) | rs121909186 |
ClinGen | rs121909186 |
ebi | rs121909186 |
HLI | rs121909186 |
Exac | rs121909186 |
Gnomad | rs121909186 |
Varsome | rs121909186 |
LitVar | rs121909186 |
Map | rs121909186 |
PheGenI | rs121909186 |
Biobank | rs121909186 |
1000 genomes | rs121909186 |
hgdp | rs121909186 |
ensembl | rs121909186 |
geneview | rs121909186 |
scholar | rs121909186 |
rs121909186 | |
pharmgkb | rs121909186 |
gwascentral | rs121909186 |
openSNP | rs121909186 |
23andMe | rs121909186 |
SNPshot | rs121909186 |
SNPdbe | rs121909186 |
MSV3d | rs121909186 |
GWAS Ctlg | rs121909186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909186(A;A) |
Alt | rs121909186(A;A) |
Reference | Rs121909186(-;-) |
Significance | Pathogenic |
Disease | Saethre-Chotzen syndrome |
Variation | info |
Gene | TWIST1 |
CLNDBN | Saethre-Chotzen syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.19156637dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008437.4, |