rs599021

plus

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

Make rs599021(A;C)

Make rs599021(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209787577

Gene

IRF6

is a	snp
is	mentioned by
dbSNP	rs599021
dbSNP (classic)	rs599021
ClinGen	rs599021
ebi	rs599021
HLI	rs599021
Exac	rs599021
Gnomad	rs599021
Varsome	rs599021
LitVar	rs599021
Map	rs599021
PheGenI	rs599021
Biobank	rs599021
1000 genomes	rs599021
hgdp	rs599021
ensembl	rs599021
geneview	rs599021
scholar	rs599021
google	rs599021
pharmgkb	rs599021
gwascentral	rs599021
openSNP	rs599021
23andMe	rs599021
SNPshot	rs599021
SNPdbe	rs599021
MSV3d	rs599021
GWAS Ctlg	rs599021

GMAF

0.3246

Max Magnitude

0

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

[PMID 17438386 ] Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.

[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.

ClinVar
Risk	rs599021(C;C)
Alt	rs599021(C;C)
Reference	Rs599021(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.209960922A>C
CLNSRC
CLNACC	RCV000263360.1, RCV000318759.1, RCV000373362.1,