rs2235377
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs2235377(C;C) |
Make rs2235377(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 209802047 |
Gene | IRF6 |
is a | snp |
is | mentioned by |
dbSNP | rs2235377 |
dbSNP (classic) | rs2235377 |
ClinGen | rs2235377 |
ebi | rs2235377 |
HLI | rs2235377 |
Exac | rs2235377 |
Gnomad | rs2235377 |
Varsome | rs2235377 |
LitVar | rs2235377 |
Map | rs2235377 |
PheGenI | rs2235377 |
Biobank | rs2235377 |
1000 genomes | rs2235377 |
hgdp | rs2235377 |
ensembl | rs2235377 |
geneview | rs2235377 |
scholar | rs2235377 |
rs2235377 | |
pharmgkb | rs2235377 |
gwascentral | rs2235377 |
openSNP | rs2235377 |
23andMe | rs2235377 |
SNPshot | rs2235377 |
SNPdbe | rs2235377 |
MSV3d | rs2235377 |
GWAS Ctlg | rs2235377 |
GMAF | 0.1377 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 19536891] The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population
ClinVar | |
---|---|
Risk | rs2235377(C;C) |
Alt | rs2235377(C;C) |
Reference | Rs2235377(T;T) |
Significance | Non-pathogenic |
Disease | Cleft Lip +/- Cleft Palate Popliteal pterygium syndrome Van der Woude syndrome not specified |
Variation | info |
Gene | IRF6 |
CLNDBN | Cleft Lip +/- Cleft Palate, Autosomal Dominant Popliteal pterygium syndrome Van der Woude syndrome not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.209975392T>C |
CLNSRC | |
CLNACC | RCV000293777.1, RCV000337309.1, RCV000385665.1, RCV000439489.1, |