rs121907917

Orientation

minus

Stabilized

minus

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

Make rs121907917(C;T)

Make rs121907917(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31794079

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs121907917
dbSNP (classic)	rs121907917
ClinGen	rs121907917
ebi	rs121907917
HLI	rs121907917
Exac	rs121907917
Gnomad	rs121907917
Varsome	rs121907917
LitVar	rs121907917
Map	rs121907917
PheGenI	rs121907917
Biobank	rs121907917
1000 genomes	rs121907917
hgdp	rs121907917
ensembl	rs121907917
geneview	rs121907917
scholar	rs121907917
google	rs121907917
pharmgkb	rs121907917
gwascentral	rs121907917
openSNP	rs121907917
23andMe	rs121907917
SNPshot	rs121907917
SNPdbe	rs121907917
MSV3d	rs121907917
GWAS Ctlg	rs121907917

Max Magnitude

0

OMIM	607108
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121907917(T;T)
Alt	rs121907917(T;T)
Reference	Rs121907917(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.31815627G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003632.2, RCV000312176.1,