rs121907918

Orientation

minus

Stabilized

minus

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

Make rs121907918(C;T)

Make rs121907918(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31800832

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs121907918
dbSNP (classic)	rs121907918
ClinGen	rs121907918
ebi	rs121907918
HLI	rs121907918
Exac	rs121907918
Gnomad	rs121907918
Varsome	rs121907918
LitVar	rs121907918
Map	rs121907918
PheGenI	rs121907918
Biobank	rs121907918
1000 genomes	rs121907918
hgdp	rs121907918
ensembl	rs121907918
geneview	rs121907918
scholar	rs121907918
google	rs121907918
pharmgkb	rs121907918
gwascentral	rs121907918
openSNP	rs121907918
23andMe	rs121907918
SNPshot	rs121907918
SNPdbe	rs121907918
MSV3d	rs121907918
GWAS Ctlg	rs121907918

Max Magnitude

0

OMIM	607108
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121907918(T;T)
Alt	rs121907918(T;T)
Reference	Rs121907918(C;C)
Significance	Pathogenic
Disease	Foveal hypoplasia and presenile cataract syndrome
Variation	info
Gene	PAX6
CLNDBN	Foveal hypoplasia and presenile cataract syndrome
Reversed	1
HGVS	NC_000011.9:g.31822380G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003635.6,