rs397517919

Orientation

minus

Stabilized

minus

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

Make rs397517919(-;T)

Make rs397517919(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71211156

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs397517919
dbSNP (classic)	rs397517919
ClinGen	rs397517919
ebi	rs397517919
HLI	rs397517919
Exac	rs397517919
Gnomad	rs397517919
Varsome	rs397517919
LitVar	rs397517919
Map	rs397517919
PheGenI	rs397517919
Biobank	rs397517919
1000 genomes	rs397517919
hgdp	rs397517919
ensembl	rs397517919
geneview	rs397517919
scholar	rs397517919
google	rs397517919
pharmgkb	rs397517919
gwascentral	rs397517919
openSNP	rs397517919
23andMe	rs397517919
SNPshot	rs397517919
SNPdbe	rs397517919
MSV3d	rs397517919
GWAS Ctlg	rs397517919

Max Magnitude

0

ClinVar
Risk	rs397517919(T;T)
Alt	rs397517919(T;T)
Reference	Rs397517919(;)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72123391_72123392insA
CLNSRC	ClinVar
CLNACC	RCV000041390.2,