rs2235375

plus

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

Make rs2235375(C;C)

Make rs2235375(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209792242

Gene

IRF6

is a	snp
is	mentioned by
dbSNP	rs2235375
dbSNP (classic)	rs2235375
ClinGen	rs2235375
ebi	rs2235375
HLI	rs2235375
Exac	rs2235375
Gnomad	rs2235375
Varsome	rs2235375
LitVar	rs2235375
Map	rs2235375
PheGenI	rs2235375
Biobank	rs2235375
1000 genomes	rs2235375
hgdp	rs2235375
ensembl	rs2235375
geneview	rs2235375
scholar	rs2235375
google	rs2235375
pharmgkb	rs2235375
gwascentral	rs2235375
openSNP	rs2235375
23andMe	rs2235375
SNPshot	rs2235375
SNPdbe	rs2235375
MSV3d	rs2235375
GWAS Ctlg	rs2235375

GMAF

0.4045

Max Magnitude

0

?

(C;C) (C;G) (G;G)

28

OMIM	608864
Desc	OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
Variant
Related	also

[PMID 19734457 ] Association between IRF6 SNPs and oral clefts in West China

[PMID 15558496 ] Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.

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

[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 20215007 ] Genetic control of individual differences in gene-specific methylation in human brain.

ClinVar
Risk	rs2235375(A;A) rs2235375(C;C) rs2235375(T;T)
Alt	rs2235375(A;A) rs2235375(C;C) rs2235375(T;T)
Reference	Rs2235375(G;G)
Significance	Non-pathogenic
Disease	not specified
Variation	info
Gene	IRF6
CLNDBN	not specified
Reversed	0
HGVS	NC_000001.10:g.209965587G>C
CLNSRC
CLNACC	RCV000243201.1,

[PMID 28712851 ] IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in south Indian population.