rs606231357

Orientation

minus

Stabilized

minus

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

Make rs606231357(A;A)

Make rs606231357(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

71271753

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs606231357
dbSNP (classic)	rs606231357
ClinGen	rs606231357
ebi	rs606231357
HLI	rs606231357
Exac	rs606231357
Gnomad	rs606231357
Varsome	rs606231357
LitVar	rs606231357
Map	rs606231357
PheGenI	rs606231357
Biobank	rs606231357
1000 genomes	rs606231357
hgdp	rs606231357
ensembl	rs606231357
geneview	rs606231357
scholar	rs606231357
google	rs606231357
pharmgkb	rs606231357
gwascentral	rs606231357
openSNP	rs606231357
23andMe	rs606231357
SNPshot	rs606231357
SNPdbe	rs606231357
MSV3d	rs606231357
GWAS Ctlg	rs606231357

Max Magnitude

0

ClinVar
Risk	rs606231357(A;A)
Alt	rs606231357(A;A)
Reference	Rs606231357(G;G)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72183988C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008408.4,