rs121907920

Orientation

minus

Stabilized

minus

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

Make rs121907920(G;T)

Make rs121907920(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31801727

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs121907920
dbSNP (classic)	rs121907920
ClinGen	rs121907920
ebi	rs121907920
HLI	rs121907920
Exac	rs121907920
Gnomad	rs121907920
Varsome	rs121907920
LitVar	rs121907920
Map	rs121907920
PheGenI	rs121907920
Biobank	rs121907920
1000 genomes	rs121907920
hgdp	rs121907920
ensembl	rs121907920
geneview	rs121907920
scholar	rs121907920
google	rs121907920
pharmgkb	rs121907920
gwascentral	rs121907920
openSNP	rs121907920
23andMe	rs121907920
SNPshot	rs121907920
SNPdbe	rs121907920
MSV3d	rs121907920
GWAS Ctlg	rs121907920

Max Magnitude

0

OMIM	607108
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121907920(T;T)
Alt	rs121907920(T;T)
Reference	Rs121907920(G;G)
Significance	Pathogenic
Disease	Foveal hypoplasia 1 with cataract
Variation	info
Gene	PAX6
CLNDBN	Foveal hypoplasia 1 with cataract
Reversed	1
HGVS	NC_000011.9:g.31823275C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003637.5,