rs121909195

Orientation

minus

Stabilized

minus

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

Make rs121909195(C;T)

Make rs121909195(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71271802

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs121909195
dbSNP (classic)	rs121909195
ClinGen	rs121909195
ebi	rs121909195
HLI	rs121909195
Exac	rs121909195
Gnomad	rs121909195
Varsome	rs121909195
LitVar	rs121909195
Map	rs121909195
PheGenI	rs121909195
Biobank	rs121909195
1000 genomes	rs121909195
hgdp	rs121909195
ensembl	rs121909195
geneview	rs121909195
scholar	rs121909195
google	rs121909195
pharmgkb	rs121909195
gwascentral	rs121909195
openSNP	rs121909195
23andMe	rs121909195
SNPshot	rs121909195
SNPdbe	rs121909195
MSV3d	rs121909195
GWAS Ctlg	rs121909195

Max Magnitude

0

OMIM	601653
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909195(G;G) rs121909195(T;T)
Alt	rs121909195(G;G) rs121909195(T;T)
Reference	Rs121909195(C;C)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72184037G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008391.5,