rs121909199

Orientation

minus

Stabilized

minus

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

Make rs121909199(A;A)

Make rs121909199(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71216776

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs121909199
dbSNP (classic)	rs121909199
ClinGen	rs121909199
ebi	rs121909199
HLI	rs121909199
Exac	rs121909199
Gnomad	rs121909199
Varsome	rs121909199
LitVar	rs121909199
Map	rs121909199
PheGenI	rs121909199
Biobank	rs121909199
1000 genomes	rs121909199
hgdp	rs121909199
ensembl	rs121909199
geneview	rs121909199
scholar	rs121909199
google	rs121909199
pharmgkb	rs121909199
gwascentral	rs121909199
openSNP	rs121909199
23andMe	rs121909199
SNPshot	rs121909199
SNPdbe	rs121909199
MSV3d	rs121909199
GWAS Ctlg	rs121909199

Max Magnitude

0

OMIM	601653
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121909199(A;A)
Alt	rs121909199(A;A)
Reference	Rs121909199(G;G)
Significance	Pathogenic
Disease	Branchiootorenal syndrome with cataract Otofaciocervical syndrome Branchiootorenal Spectrum Disorders
Variation	info
Gene	EYA1
CLNDBN	Branchiootorenal syndrome with cataract Otofaciocervical syndrome Branchiootorenal Spectrum Disorders
Reversed	1
HGVS	NC_000008.10:g.72129011C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008400.3, RCV000309264.1, RCV000367199.1,