rs200166664
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200166664(C;G) |
Make rs200166664(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 209788625 |
Gene | IRF6 |
is a | snp |
is | mentioned by |
dbSNP | rs200166664 |
dbSNP (classic) | rs200166664 |
ClinGen | rs200166664 |
ebi | rs200166664 |
HLI | rs200166664 |
Exac | rs200166664 |
Gnomad | rs200166664 |
Varsome | rs200166664 |
LitVar | rs200166664 |
Map | rs200166664 |
PheGenI | rs200166664 |
Biobank | rs200166664 |
1000 genomes | rs200166664 |
hgdp | rs200166664 |
ensembl | rs200166664 |
geneview | rs200166664 |
scholar | rs200166664 |
rs200166664 | |
pharmgkb | rs200166664 |
gwascentral | rs200166664 |
openSNP | rs200166664 |
23andMe | rs200166664 |
SNPshot | rs200166664 |
SNPdbe | rs200166664 |
MSV3d | rs200166664 |
GWAS Ctlg | rs200166664 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200166664(A;A) rs200166664(G;G) rs200166664(T;T) |
Alt | rs200166664(A;A) rs200166664(G;G) rs200166664(T;T) |
Reference | Rs200166664(C;C) |
Significance | Pathogenic |
Disease | Van der Woude syndrome |
Variation | info |
Gene | IRF6 |
CLNDBN | Van der Woude syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.209961970C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087748.5, |