rs121434226
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434226(C;T) |
Make rs121434226(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 209796477 |
Gene | IRF6 |
is a | snp |
is | mentioned by |
dbSNP | rs121434226 |
dbSNP (classic) | rs121434226 |
ClinGen | rs121434226 |
ebi | rs121434226 |
HLI | rs121434226 |
Exac | rs121434226 |
Gnomad | rs121434226 |
Varsome | rs121434226 |
LitVar | rs121434226 |
Map | rs121434226 |
PheGenI | rs121434226 |
Biobank | rs121434226 |
1000 genomes | rs121434226 |
hgdp | rs121434226 |
ensembl | rs121434226 |
geneview | rs121434226 |
scholar | rs121434226 |
rs121434226 | |
pharmgkb | rs121434226 |
gwascentral | rs121434226 |
openSNP | rs121434226 |
23andMe | rs121434226 |
SNPshot | rs121434226 |
SNPdbe | rs121434226 |
MSV3d | rs121434226 |
GWAS Ctlg | rs121434226 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434226(T;T) |
Alt | rs121434226(T;T) |
Reference | Rs121434226(C;C) |
Significance | Pathogenic |
Disease | Popliteal pterygium syndrome not provided |
Variation | info |
Gene | IRF6 |
CLNDBN | Popliteal pterygium syndrome not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.209969822G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003583.4, RCV000255145.1, |