rs121907929

Orientation

minus

Stabilized

minus

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

Make rs121907929(A;A)

Make rs121907929(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31793797

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs121907929
dbSNP (classic)	rs121907929
ClinGen	rs121907929
ebi	rs121907929
HLI	rs121907929
Exac	rs121907929
Gnomad	rs121907929
Varsome	rs121907929
LitVar	rs121907929
Map	rs121907929
PheGenI	rs121907929
Biobank	rs121907929
1000 genomes	rs121907929
hgdp	rs121907929
ensembl	rs121907929
geneview	rs121907929
scholar	rs121907929
google	rs121907929
pharmgkb	rs121907929
gwascentral	rs121907929
openSNP	rs121907929
23andMe	rs121907929
SNPshot	rs121907929
SNPdbe	rs121907929
MSV3d	rs121907929
GWAS Ctlg	rs121907929

Max Magnitude

0

OMIM	607108
Desc
Variant	0025
Related	also

ClinVar
Risk	rs121907929(A;A)
Alt	rs121907929(A;A)
Reference	Rs121907929(G;G)
Significance	Pathogenic
Disease	Aniridia 1
Variation	info
Gene	PAX6
CLNDBN	Aniridia 1
Reversed	1
HGVS	NC_000011.9:g.31815345C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003652.3,