rs397517920

Orientation

minus

Stabilized

minus

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

Make rs397517920(C;C)

Make rs397517920(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

71199371

Gene	EYA1, LOC105375894

is a	snp
is	mentioned by
dbSNP	rs397517920
dbSNP (classic)	rs397517920
ClinGen	rs397517920
ebi	rs397517920
HLI	rs397517920
Exac	rs397517920
Gnomad	rs397517920
Varsome	rs397517920
LitVar	rs397517920
Map	rs397517920
PheGenI	rs397517920
Biobank	rs397517920
1000 genomes	rs397517920
hgdp	rs397517920
ensembl	rs397517920
geneview	rs397517920
scholar	rs397517920
google	rs397517920
pharmgkb	rs397517920
gwascentral	rs397517920
openSNP	rs397517920
23andMe	rs397517920
SNPshot	rs397517920
SNPdbe	rs397517920
MSV3d	rs397517920
GWAS Ctlg	rs397517920

Max Magnitude

0

ClinVar
Risk	rs397517920(C;C)
Alt	rs397517920(C;C)
Reference	Rs397517920(T;T)
Significance	Probable-Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72111606A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000041392.2,