rs121907916

Orientation

minus

Stabilized

minus

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

Make rs121907916(C;T)

Make rs121907916(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31794705

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs121907916
dbSNP (classic)	rs121907916
ClinGen	rs121907916
ebi	rs121907916
HLI	rs121907916
Exac	rs121907916
Gnomad	rs121907916
Varsome	rs121907916
LitVar	rs121907916
Map	rs121907916
PheGenI	rs121907916
Biobank	rs121907916
1000 genomes	rs121907916
hgdp	rs121907916
ensembl	rs121907916
geneview	rs121907916
scholar	rs121907916
google	rs121907916
pharmgkb	rs121907916
gwascentral	rs121907916
openSNP	rs121907916
23andMe	rs121907916
SNPshot	rs121907916
SNPdbe	rs121907916
MSV3d	rs121907916
GWAS Ctlg	rs121907916

Max Magnitude

0

OMIM	607108
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121907916(T;T)
Alt	rs121907916(T;T)
Reference	Rs121907916(C;C)
Significance	Pathogenic
Disease	Aniridia 1 not provided
Variation	info
Gene	PAX6
CLNDBN	Aniridia 1 not provided
Reversed	1
HGVS	NC_000011.9:g.31816253G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000003631.4, RCV000078545.3,