rs121909201

Orientation

minus

Stabilized

minus

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

Make rs121909201(G;G)

Make rs121909201(G;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71215470

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs121909201
dbSNP (classic)	rs121909201
ClinGen	rs121909201
ebi	rs121909201
HLI	rs121909201
Exac	rs121909201
Gnomad	rs121909201
Varsome	rs121909201
LitVar	rs121909201
Map	rs121909201
PheGenI	rs121909201
Biobank	rs121909201
1000 genomes	rs121909201
hgdp	rs121909201
ensembl	rs121909201
geneview	rs121909201
scholar	rs121909201
google	rs121909201
pharmgkb	rs121909201
gwascentral	rs121909201
openSNP	rs121909201
23andMe	rs121909201
SNPshot	rs121909201
SNPdbe	rs121909201
MSV3d	rs121909201
GWAS Ctlg	rs121909201

Max Magnitude

0

OMIM	601653
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121909201(G;G)
Alt	rs121909201(G;G)
Reference	Rs121909201(T;T)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72127705A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008403.3,