rs121909196

Orientation

minus

Stabilized

minus

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

Make rs121909196(A;A)

Make rs121909196(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71216733

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs121909196
dbSNP (classic)	rs121909196
ClinGen	rs121909196
ebi	rs121909196
HLI	rs121909196
Exac	rs121909196
Gnomad	rs121909196
Varsome	rs121909196
LitVar	rs121909196
Map	rs121909196
PheGenI	rs121909196
Biobank	rs121909196
1000 genomes	rs121909196
hgdp	rs121909196
ensembl	rs121909196
geneview	rs121909196
scholar	rs121909196
google	rs121909196
pharmgkb	rs121909196
gwascentral	rs121909196
openSNP	rs121909196
23andMe	rs121909196
SNPshot	rs121909196
SNPdbe	rs121909196
MSV3d	rs121909196
GWAS Ctlg	rs121909196

Max Magnitude

0

OMIM	601653
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121909196(A;A)
Alt	rs121909196(A;A)
Reference	Rs121909196(G;G)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72128968C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008397.5,