rs861019

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs861019(A;G)

Make rs861019(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209802041

Gene

IRF6

is a	snp
is	mentioned by
dbSNP	rs861019
dbSNP (classic)	rs861019
ClinGen	rs861019
ebi	rs861019
HLI	rs861019
Exac	rs861019
Gnomad	rs861019
Varsome	rs861019
LitVar	rs861019
Map	rs861019
PheGenI	rs861019
Biobank	rs861019
1000 genomes	rs861019
hgdp	rs861019
ensembl	rs861019
geneview	rs861019
scholar	rs861019
google	rs861019
pharmgkb	rs861019
gwascentral	rs861019
openSNP	rs861019
23andMe	rs861019
SNPshot	rs861019
SNPdbe	rs861019
MSV3d	rs861019
GWAS Ctlg	rs861019

GMAF

0.3981

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 19388848] Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china

[PMID 17318851 ] Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.

[PMID 18209213] Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes.

[PMID 18278815 ] Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.

[PMID 21834040] Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population.

ClinVar
Risk	rs861019(G;G)
Alt	rs861019(G;G)
Reference	Rs861019(A;A)
Significance	Non-pathogenic
Disease	Popliteal pterygium syndrome Van der Woude syndrome Cleft Lip +/- Cleft Palate
Variation	info
Gene	IRF6
CLNDBN	Popliteal pterygium syndrome Van der Woude syndrome Cleft Lip +/- Cleft Palate, Autosomal Dominant
Reversed	0
HGVS	NC_000001.10:g.209975386A>G
CLNSRC
CLNACC	RCV000294795.1, RCV000352053.1, RCV000382341.1,