rs397517916

Orientation

minus

Stabilized

minus

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

Make rs397517916(-;-)

Make rs397517916(-;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71244621

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs397517916
dbSNP (classic)	rs397517916
ClinGen	rs397517916
ebi	rs397517916
HLI	rs397517916
Exac	rs397517916
Gnomad	rs397517916
Varsome	rs397517916
LitVar	rs397517916
Map	rs397517916
PheGenI	rs397517916
Biobank	rs397517916
1000 genomes	rs397517916
hgdp	rs397517916
ensembl	rs397517916
geneview	rs397517916
scholar	rs397517916
google	rs397517916
pharmgkb	rs397517916
gwascentral	rs397517916
openSNP	rs397517916
23andMe	rs397517916
SNPshot	rs397517916
SNPdbe	rs397517916
MSV3d	rs397517916
GWAS Ctlg	rs397517916

Max Magnitude

0

ClinVar
Risk	rs397517916(-;-)
Alt	rs397517916(-;-)
Reference	Rs397517916(A;A)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72156856delT
CLNSRC	ClinVar
CLNACC	RCV000041385.2,