rs121434231

Orientation

minus

Stabilized

minus

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

Make rs121434231(G;T)

Make rs121434231(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209790539

Gene

IRF6

is a	snp
is	mentioned by
dbSNP	rs121434231
dbSNP (classic)	rs121434231
ClinGen	rs121434231
ebi	rs121434231
HLI	rs121434231
Exac	rs121434231
Gnomad	rs121434231
Varsome	rs121434231
LitVar	rs121434231
Map	rs121434231
PheGenI	rs121434231
Biobank	rs121434231
1000 genomes	rs121434231
hgdp	rs121434231
ensembl	rs121434231
geneview	rs121434231
scholar	rs121434231
google	rs121434231
pharmgkb	rs121434231
gwascentral	rs121434231
openSNP	rs121434231
23andMe	rs121434231
SNPshot	rs121434231
SNPdbe	rs121434231
MSV3d	rs121434231
GWAS Ctlg	rs121434231

Max Magnitude

0

OMIM	607199
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121434231(T;T)
Alt	rs121434231(T;T)
Reference	Rs121434231(G;G)
Significance	Pathogenic
Disease	Van der Woude syndrome Popliteal pterygium syndrome
Variation	info
Gene	IRF6
CLNDBN	Van der Woude syndrome Popliteal pterygium syndrome
Reversed	1
HGVS	NC_000001.10:g.209963884C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003592.4, RCV000023627.4,