rs727503042

Orientation

minus

Stabilized

minus

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

Make rs727503042(C;C)

Make rs727503042(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

71215613

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs727503042
dbSNP (classic)	rs727503042
ClinGen	rs727503042
ebi	rs727503042
HLI	rs727503042
Exac	rs727503042
Gnomad	rs727503042
Varsome	rs727503042
LitVar	rs727503042
Map	rs727503042
PheGenI	rs727503042
Biobank	rs727503042
1000 genomes	rs727503042
hgdp	rs727503042
ensembl	rs727503042
geneview	rs727503042
scholar	rs727503042
google	rs727503042
pharmgkb	rs727503042
gwascentral	rs727503042
openSNP	rs727503042
23andMe	rs727503042
SNPshot	rs727503042
SNPdbe	rs727503042
MSV3d	rs727503042
GWAS Ctlg	rs727503042

Max Magnitude

0

ClinVar
Risk	rs727503042(C;C)
Alt	rs727503042(C;C)
Reference	Rs727503042(G;G)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72127848C>G
CLNSRC
CLNACC	RCV000150668.1,