rs606231355

Orientation

minus

Stabilized

minus

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

Make rs606231355(-;-)

Make rs606231355(-;AAAG)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

71211156

Gene

EYA1

is a	snp
is	mentioned by
dbSNP	rs606231355
dbSNP (classic)	rs606231355
ClinGen	rs606231355
ebi	rs606231355
HLI	rs606231355
Exac	rs606231355
Gnomad	rs606231355
Varsome	rs606231355
LitVar	rs606231355
Map	rs606231355
PheGenI	rs606231355
Biobank	rs606231355
1000 genomes	rs606231355
hgdp	rs606231355
ensembl	rs606231355
geneview	rs606231355
scholar	rs606231355
google	rs606231355
pharmgkb	rs606231355
gwascentral	rs606231355
openSNP	rs606231355
23andMe	rs606231355
SNPshot	rs606231355
SNPdbe	rs606231355
MSV3d	rs606231355
GWAS Ctlg	rs606231355

Max Magnitude

0

ClinVar
Risk	rs606231355(-;-)
Alt	rs606231355(-;-)
Reference	Rs606231355(AAAG;AAAG)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	EYA1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000008.10:g.72123391_72123394delCTTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008396.4,