rs397517918

Orientation

minus

Stabilized

minus

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

Make rs397517918(A;A)

Make rs397517918(A;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71215405

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs397517918
dbSNP (classic)	rs397517918
ClinGen	rs397517918
ebi	rs397517918
HLI	rs397517918
Exac	rs397517918
Gnomad	rs397517918
Varsome	rs397517918
LitVar	rs397517918
Map	rs397517918
PheGenI	rs397517918
Biobank	rs397517918
1000 genomes	rs397517918
hgdp	rs397517918
ensembl	rs397517918
geneview	rs397517918
scholar	rs397517918
google	rs397517918
pharmgkb	rs397517918
gwascentral	rs397517918
openSNP	rs397517918
23andMe	rs397517918
SNPshot	rs397517918
SNPdbe	rs397517918
MSV3d	rs397517918
GWAS Ctlg	rs397517918

Max Magnitude

0

ClinVar
Risk	rs397517918(A;A)
Alt	rs397517918(A;A)
Reference	Rs397517918(T;T)
Significance	Probable-Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72127640A>T
CLNSRC	ClinVar
CLNACC	RCV000041389.2,