rs886038202
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs886038202(C;C) |
Make rs886038202(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 209788508 |
Gene | IRF6 |
is a | snp |
is | mentioned by |
dbSNP | rs886038202 |
dbSNP (classic) | rs886038202 |
ClinGen | rs886038202 |
ebi | rs886038202 |
HLI | rs886038202 |
Exac | rs886038202 |
Gnomad | rs886038202 |
Varsome | rs886038202 |
LitVar | rs886038202 |
Map | rs886038202 |
PheGenI | rs886038202 |
Biobank | rs886038202 |
1000 genomes | rs886038202 |
hgdp | rs886038202 |
ensembl | rs886038202 |
geneview | rs886038202 |
scholar | rs886038202 |
rs886038202 | |
pharmgkb | rs886038202 |
gwascentral | rs886038202 |
openSNP | rs886038202 |
23andMe | rs886038202 |
SNPshot | rs886038202 |
SNPdbe | rs886038202 |
MSV3d | rs886038202 |
GWAS Ctlg | rs886038202 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886038202(C;C) |
Alt | rs886038202(C;C) |
Reference | Rs886038202(T;T) |
Significance | Pathogenic |
Disease | Popliteal pterygium syndrome |
Variation | info |
Gene | IRF6 |
CLNDBN | Popliteal pterygium syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.209961853A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000241540.1, |