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rs1044516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1044516(A;A)
Make rs1044516(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position209786269
GeneC1orf74, IRF6
is asnp
is mentioned by
dbSNPrs1044516
dbSNP (old)rs1044516
ClinGenrs1044516
ebirs1044516
HLIrs1044516
Exacrs1044516
Varsomers1044516
Maprs1044516
PheGenIrs1044516
Biobankrs1044516
1000 genomesrs1044516
hgdprs1044516
ensemblrs1044516
gopubmedrs1044516
geneviewrs1044516
scholarrs1044516
googlers1044516
pharmgkbrs1044516
gwascentralrs1044516
openSNPrs1044516
23andMers1044516
23andMe allrs1044516
SNP Nexus

SNPshotrs1044516
SNPdbers1044516
MSV3drs1044516
GWAS Ctlgrs1044516
GMAF0.2966
Max Magnitude0
? (A;A) (A;C) (C;C) 28
[PMID 20652317OA-icon.png] 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,