rs121909191
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909191(C;T) |
Make rs121909191(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 19116759 |
Gene | TWIST1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909191 |
dbSNP (classic) | rs121909191 |
ClinGen | rs121909191 |
ebi | rs121909191 |
HLI | rs121909191 |
Exac | rs121909191 |
Gnomad | rs121909191 |
Varsome | rs121909191 |
LitVar | rs121909191 |
Map | rs121909191 |
PheGenI | rs121909191 |
Biobank | rs121909191 |
1000 genomes | rs121909191 |
hgdp | rs121909191 |
ensembl | rs121909191 |
geneview | rs121909191 |
scholar | rs121909191 |
rs121909191 | |
pharmgkb | rs121909191 |
gwascentral | rs121909191 |
openSNP | rs121909191 |
23andMe | rs121909191 |
SNPshot | rs121909191 |
SNPdbe | rs121909191 |
MSV3d | rs121909191 |
GWAS Ctlg | rs121909191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909191(T;T) |
Alt | rs121909191(T;T) |
Reference | Rs121909191(C;C) |
Significance | Pathogenic |
Disease | Craniosynostosis 1 |
Variation | info |
Gene | TWIST1 |
CLNDBN | Craniosynostosis 1 |
Reversed | 1 |
HGVS | NC_000007.13:g.19156382G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008450.4, |