rs121907915

Orientation

minus

Stabilized

minus

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

Make rs121907915(C;G)

Make rs121907915(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31790835

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs121907915
dbSNP (classic)	rs121907915
ClinGen	rs121907915
ebi	rs121907915
HLI	rs121907915
Exac	rs121907915
Gnomad	rs121907915
Varsome	rs121907915
LitVar	rs121907915
Map	rs121907915
PheGenI	rs121907915
Biobank	rs121907915
1000 genomes	rs121907915
hgdp	rs121907915
ensembl	rs121907915
geneview	rs121907915
scholar	rs121907915
google	rs121907915
pharmgkb	rs121907915
gwascentral	rs121907915
openSNP	rs121907915
23andMe	rs121907915
SNPshot	rs121907915
SNPdbe	rs121907915
MSV3d	rs121907915
GWAS Ctlg	rs121907915

Max Magnitude

0

OMIM	607108
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121907915(G;G)
Alt	rs121907915(G;G)
Reference	Rs121907915(C;C)
Significance	Pathogenic
Disease	Cataracts
Variation	info
Gene	PAX6
CLNDBN	Cataracts, congenital, with late-onset corneal dystrophy
Reversed	1
HGVS	NC_000011.9:g.31812383G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003626.3,