rs28942093

Orientation

minus

Stabilized

minus

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

Make rs28942093(C;T)

Make rs28942093(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209801409

Gene

IRF6

is a	snp
is	mentioned by
dbSNP	rs28942093
dbSNP (classic)	rs28942093
ClinGen	rs28942093
ebi	rs28942093
HLI	rs28942093
Exac	rs28942093
Gnomad	rs28942093
Varsome	rs28942093
LitVar	rs28942093
Map	rs28942093
PheGenI	rs28942093
Biobank	rs28942093
1000 genomes	rs28942093
hgdp	rs28942093
ensembl	rs28942093
geneview	rs28942093
scholar	rs28942093
google	rs28942093
pharmgkb	rs28942093
gwascentral	rs28942093
openSNP	rs28942093
23andMe	rs28942093
SNPshot	rs28942093
SNPdbe	rs28942093
MSV3d	rs28942093
GWAS Ctlg	rs28942093

Max Magnitude

0

OMIM	607199
Desc	VAN DER WOUDE SYNDROME
Variant	0006
Related	also

ClinVar
Risk	rs28942093(T;T)
Alt	rs28942093(T;T)
Reference	Rs28942093(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.209974754G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003585.3,