rs1044516

minus

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

Make rs1044516(A;A)

Make rs1044516(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209786269

Gene	C1orf74, IRF6

is a	snp
is	mentioned by
dbSNP	rs1044516
dbSNP (classic)	rs1044516
ClinGen	rs1044516
ebi	rs1044516
HLI	rs1044516
Exac	rs1044516
Gnomad	rs1044516
Varsome	rs1044516
LitVar	rs1044516
Map	rs1044516
PheGenI	rs1044516
Biobank	rs1044516
1000 genomes	rs1044516
hgdp	rs1044516
ensembl	rs1044516
geneview	rs1044516
scholar	rs1044516
google	rs1044516
pharmgkb	rs1044516
gwascentral	rs1044516
openSNP	rs1044516
23andMe	rs1044516
SNPshot	rs1044516
SNPdbe	rs1044516
MSV3d	rs1044516
GWAS Ctlg	rs1044516

GMAF

0.2966

Max Magnitude

0

?

(A;A) (A;C) (C;C)

28

[PMID 20652317 ] Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate

ClinVar
Risk	rs1044516(A;A)
Alt	rs1044516(A;A)
Reference	Rs1044516(C;C)
Significance	Non-pathogenic
Disease	Popliteal pterygium syndrome Cleft Lip +/- Cleft Palate Van der Woude syndrome
Variation	info
Gene	C1orf74 IRF6
CLNDBN	Popliteal pterygium syndrome Cleft Lip +/- Cleft Palate, Autosomal Dominant Van der Woude syndrome
Reversed	1
HGVS	NC_000001.10:g.209959614G>T
CLNSRC
CLNACC	RCV000264919.1, RCV000323553.1, RCV000378096.1,