rs28942094

Orientation

minus

Stabilized

minus

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

Make rs28942094(C;T)

Make rs28942094(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209801398

Gene

IRF6

is a	snp
is	mentioned by
dbSNP	rs28942094
dbSNP (classic)	rs28942094
ClinGen	rs28942094
ebi	rs28942094
HLI	rs28942094
Exac	rs28942094
Gnomad	rs28942094
Varsome	rs28942094
LitVar	rs28942094
Map	rs28942094
PheGenI	rs28942094
Biobank	rs28942094
1000 genomes	rs28942094
hgdp	rs28942094
ensembl	rs28942094
geneview	rs28942094
scholar	rs28942094
google	rs28942094
pharmgkb	rs28942094
gwascentral	rs28942094
openSNP	rs28942094
23andMe	rs28942094
SNPshot	rs28942094
SNPdbe	rs28942094
MSV3d	rs28942094
GWAS Ctlg	rs28942094

Max Magnitude

0

OMIM	607199
Desc	VAN DER WOUDE SYNDROME
Variant	0007
Related	also

ClinVar
Risk	rs28942094(T;T)
Alt	rs28942094(T;T)
Reference	Rs28942094(C;C)
Significance	Pathogenic
Disease	Van der Woude syndrome not provided Cleft palate
Variation	info
Gene	IRF6
CLNDBN	Van der Woude syndrome not provided Cleft palate
Reversed	1
HGVS	NC_000001.10:g.209974743G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003586.4, RCV000413551.1, RCV000414901.1,