rs121909202

Orientation

minus

Stabilized

minus

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

Make rs121909202(C;T)

Make rs121909202(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71244662

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs121909202
dbSNP (classic)	rs121909202
ClinGen	rs121909202
ebi	rs121909202
HLI	rs121909202
Exac	rs121909202
Gnomad	rs121909202
Varsome	rs121909202
LitVar	rs121909202
Map	rs121909202
PheGenI	rs121909202
Biobank	rs121909202
1000 genomes	rs121909202
hgdp	rs121909202
ensembl	rs121909202
geneview	rs121909202
scholar	rs121909202
google	rs121909202
pharmgkb	rs121909202
gwascentral	rs121909202
openSNP	rs121909202
23andMe	rs121909202
SNPshot	rs121909202
SNPdbe	rs121909202
MSV3d	rs121909202
GWAS Ctlg	rs121909202

Max Magnitude

0

OMIM	601653
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121909202(T;T)
Alt	rs121909202(T;T)
Reference	Rs121909202(C;C)
Significance	Pathogenic
Disease	Branchiootic syndrome Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Branchiootic syndrome Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72156897G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008405.2, RCV000008406.2,