rs121909200

Orientation

minus

Stabilized

minus

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

Make rs121909200(C;C)

Make rs121909200(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71215630

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs121909200
dbSNP (classic)	rs121909200
ClinGen	rs121909200
ebi	rs121909200
HLI	rs121909200
Exac	rs121909200
Gnomad	rs121909200
Varsome	rs121909200
LitVar	rs121909200
Map	rs121909200
PheGenI	rs121909200
Biobank	rs121909200
1000 genomes	rs121909200
hgdp	rs121909200
ensembl	rs121909200
geneview	rs121909200
scholar	rs121909200
google	rs121909200
pharmgkb	rs121909200
gwascentral	rs121909200
openSNP	rs121909200
23andMe	rs121909200
SNPshot	rs121909200
SNPdbe	rs121909200
MSV3d	rs121909200
GWAS Ctlg	rs121909200

Max Magnitude

0

OMIM	601653
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121909200(C;C)
Alt	rs121909200(C;C)
Reference	Rs121909200(T;T)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72127865A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008402.3,