rs121907919

Orientation

minus

Stabilized

minus

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

Make rs121907919(A;A)

Make rs121907919(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31800837

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs121907919
dbSNP (classic)	rs121907919
ClinGen	rs121907919
ebi	rs121907919
HLI	rs121907919
Exac	rs121907919
Gnomad	rs121907919
Varsome	rs121907919
LitVar	rs121907919
Map	rs121907919
PheGenI	rs121907919
Biobank	rs121907919
1000 genomes	rs121907919
hgdp	rs121907919
ensembl	rs121907919
geneview	rs121907919
scholar	rs121907919
google	rs121907919
pharmgkb	rs121907919
gwascentral	rs121907919
openSNP	rs121907919
23andMe	rs121907919
SNPshot	rs121907919
SNPdbe	rs121907919
MSV3d	rs121907919
GWAS Ctlg	rs121907919

Max Magnitude

0

OMIM	607108
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121907919(A;A)
Alt	rs121907919(A;A)
Reference	Rs121907919(T;T)
Significance	Pathogenic
Disease	Aniridia
Variation	info
Gene	PAX6
CLNDBN	Aniridia, atypical
Reversed	1
HGVS	NC_000011.9:g.31822385A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003636.4,