rs387906968
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906968(C;T) |
Make rs387906968(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 209788553 |
Gene | IRF6 |
is a | snp |
is | mentioned by |
dbSNP | rs387906968 |
dbSNP (classic) | rs387906968 |
ClinGen | rs387906968 |
ebi | rs387906968 |
HLI | rs387906968 |
Exac | rs387906968 |
Gnomad | rs387906968 |
Varsome | rs387906968 |
LitVar | rs387906968 |
Map | rs387906968 |
PheGenI | rs387906968 |
Biobank | rs387906968 |
1000 genomes | rs387906968 |
hgdp | rs387906968 |
ensembl | rs387906968 |
geneview | rs387906968 |
scholar | rs387906968 |
rs387906968 | |
pharmgkb | rs387906968 |
gwascentral | rs387906968 |
openSNP | rs387906968 |
23andMe | rs387906968 |
SNPshot | rs387906968 |
SNPdbe | rs387906968 |
MSV3d | rs387906968 |
GWAS Ctlg | rs387906968 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906968(T;T) |
Alt | rs387906968(T;T) |
Reference | Rs387906968(C;C) |
Significance | Pathogenic |
Disease | Popliteal pterygium syndrome |
Variation | info |
Gene | IRF6 |
CLNDBN | Popliteal pterygium syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.209961898G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023631.3, |