rs121434229

Orientation

minus

Stabilized

minus

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

Make rs121434229(A;A)

Make rs121434229(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209801280

Gene

IRF6

is a	snp
is	mentioned by
dbSNP	rs121434229
dbSNP (classic)	rs121434229
ClinGen	rs121434229
ebi	rs121434229
HLI	rs121434229
Exac	rs121434229
Gnomad	rs121434229
Varsome	rs121434229
LitVar	rs121434229
Map	rs121434229
PheGenI	rs121434229
Biobank	rs121434229
1000 genomes	rs121434229
hgdp	rs121434229
ensembl	rs121434229
geneview	rs121434229
scholar	rs121434229
google	rs121434229
pharmgkb	rs121434229
gwascentral	rs121434229
openSNP	rs121434229
23andMe	rs121434229
SNPshot	rs121434229
SNPdbe	rs121434229
MSV3d	rs121434229
GWAS Ctlg	rs121434229

GMAF

0.0004591

Max Magnitude

0

OMIM	607199
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121434229(A;A)
Alt	rs121434229(A;A)
Reference	Rs121434229(G;G)
Significance	Pathogenic
Disease	Van der Woude syndrome
Variation	info
Gene	IRF6
CLNDBN	Van der Woude syndrome
Reversed	1
HGVS	NC_000001.10:g.209974625C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003590.4,