rs121907921

Orientation

minus

Stabilized

minus

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

Make rs121907921(A;A)

Make rs121907921(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31801893

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs121907921
dbSNP (classic)	rs121907921
ClinGen	rs121907921
ebi	rs121907921
HLI	rs121907921
Exac	rs121907921
Gnomad	rs121907921
Varsome	rs121907921
LitVar	rs121907921
Map	rs121907921
PheGenI	rs121907921
Biobank	rs121907921
1000 genomes	rs121907921
hgdp	rs121907921
ensembl	rs121907921
geneview	rs121907921
scholar	rs121907921
google	rs121907921
pharmgkb	rs121907921
gwascentral	rs121907921
openSNP	rs121907921
23andMe	rs121907921
SNPshot	rs121907921
SNPdbe	rs121907921
MSV3d	rs121907921
GWAS Ctlg	rs121907921

Max Magnitude

0

OMIM	607108
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121907921(A;A)
Alt	rs121907921(A;A)
Reference	Rs121907921(T;T)
Significance	Pathogenic
Disease	ANTERIOR SEGMENT DYSGENESIS 5 Foveal hypoplasia 1 with or without anterior segment anomalies
Variation	info
Gene	PAX6
CLNDBN	ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES Foveal hypoplasia 1 with or without anterior segment anomalies
Reversed	1
HGVS	NC_000011.9:g.31823441A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003638.7, RCV000128793.5,