rs727504494

Orientation

minus

Stabilized

minus

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

Make rs727504494(A;A)

Make rs727504494(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

71317680

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs727504494
dbSNP (classic)	rs727504494
ClinGen	rs727504494
ebi	rs727504494
HLI	rs727504494
Exac	rs727504494
Gnomad	rs727504494
Varsome	rs727504494
LitVar	rs727504494
Map	rs727504494
PheGenI	rs727504494
Biobank	rs727504494
1000 genomes	rs727504494
hgdp	rs727504494
ensembl	rs727504494
geneview	rs727504494
scholar	rs727504494
google	rs727504494
pharmgkb	rs727504494
gwascentral	rs727504494
openSNP	rs727504494
23andMe	rs727504494
SNPshot	rs727504494
SNPdbe	rs727504494
MSV3d	rs727504494
GWAS Ctlg	rs727504494

Max Magnitude

0

ClinVar
Risk	rs727504494(A;A) rs727504494(T;T)
Alt	rs727504494(A;A) rs727504494(T;T)
Reference	Rs727504494(G;G)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72229915C>T
CLNSRC
CLNACC	RCV000155629.1,