rs121909197

Orientation

minus

Stabilized

minus

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

Make rs121909197(A;G)

Make rs121909197(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71211215

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs121909197
dbSNP (classic)	rs121909197
ClinGen	rs121909197
ebi	rs121909197
HLI	rs121909197
Exac	rs121909197
Gnomad	rs121909197
Varsome	rs121909197
LitVar	rs121909197
Map	rs121909197
PheGenI	rs121909197
Biobank	rs121909197
1000 genomes	rs121909197
hgdp	rs121909197
ensembl	rs121909197
geneview	rs121909197
scholar	rs121909197
google	rs121909197
pharmgkb	rs121909197
gwascentral	rs121909197
openSNP	rs121909197
23andMe	rs121909197
SNPshot	rs121909197
SNPdbe	rs121909197
MSV3d	rs121909197
GWAS Ctlg	rs121909197

Max Magnitude

0

OMIM	601653
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121909197(G;G)
Alt	rs121909197(G;G)
Reference	Rs121909197(A;A)
Significance	Pathogenic
Disease	Anterior segment anomalies and cataract
Variation	info
Gene	EYA1
CLNDBN	Anterior segment anomalies and cataract
Reversed	1
HGVS	NC_000008.10:g.72123450T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008398.3,