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rs28942094

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28942094(C;T)
Make rs28942094(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209801398
GeneIRF6
is asnp
is mentioned by
dbSNPrs28942094
ebirs28942094
HLIrs28942094
Exacrs28942094
Varsomers28942094
Maprs28942094
PheGenIrs28942094
hapmaprs28942094
1000 genomesrs28942094
hgdprs28942094
ensemblrs28942094
gopubmedrs28942094
geneviewrs28942094
scholarrs28942094
googlers28942094
pharmgkbrs28942094
gwascentralrs28942094
openSNPrs28942094
23andMers28942094
23andMe allrs28942094
SNP Nexus

SNPshotrs28942094
SNPdbers28942094
MSV3drs28942094
GWAS Ctlgrs28942094
Max Magnitude0
OMIM607199
DescVAN DER WOUDE SYNDROME
Variant0007
Relatedalso
Neighborrs28942093
Distance11
ClinVar
Risk rs28942094(T;T)
Alt rs28942094(T;T)
Reference rs28942094(C;C)
Significance Pathogenic
Disease Van der Woude syndrome
Variation info
Gene IRF6
CLNDBN Van der Woude syndrome
Reversed 1
HGVS NC_000001.10:g.209974743G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003586.4,