rs28942095

Orientation

minus

Stabilized

minus

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

Make rs28942095(C;T)

Make rs28942095(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209788626

Gene

IRF6

is a	snp
is	mentioned by
dbSNP	rs28942095
dbSNP (classic)	rs28942095
ClinGen	rs28942095
ebi	rs28942095
HLI	rs28942095
Exac	rs28942095
Gnomad	rs28942095
Varsome	rs28942095
LitVar	rs28942095
Map	rs28942095
PheGenI	rs28942095
Biobank	rs28942095
1000 genomes	rs28942095
hgdp	rs28942095
ensembl	rs28942095
geneview	rs28942095
scholar	rs28942095
google	rs28942095
pharmgkb	rs28942095
gwascentral	rs28942095
openSNP	rs28942095
23andMe	rs28942095
SNPshot	rs28942095
SNPdbe	rs28942095
MSV3d	rs28942095
GWAS Ctlg	rs28942095

Max Magnitude

0

OMIM	607199
Desc	VAN DER WOUDE SYNDROME
Variant	0009
Related	also

ClinVar
Risk	rs28942095(T;T)
Alt	rs28942095(T;T)
Reference	Rs28942095(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.209961971G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003588.5,