rs1057517533

Orientation

minus

Stabilized

minus

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

Make rs1057517533(-;-)

Make rs1057517533(-;CTCCCTT)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

215674648

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs1057517533
dbSNP (classic)	rs1057517533
ClinGen	rs1057517533
ebi	rs1057517533
HLI	rs1057517533
Exac	rs1057517533
Gnomad	rs1057517533
Varsome	rs1057517533
LitVar	rs1057517533
Map	rs1057517533
PheGenI	rs1057517533
Biobank	rs1057517533
1000 genomes	rs1057517533
hgdp	rs1057517533
ensembl	rs1057517533
geneview	rs1057517533
scholar	rs1057517533
google	rs1057517533
pharmgkb	rs1057517533
gwascentral	rs1057517533
openSNP	rs1057517533
23andMe	rs1057517533
SNPshot	rs1057517533
SNPdbe	rs1057517533
MSV3d	rs1057517533
GWAS Ctlg	rs1057517533

Max Magnitude

0

ClinVar
Risk	rs1057517533(-;-)
Alt	rs1057517533(-;-)
Reference	Rs1057517533(CTCCCTT;CTCCCTT)
Significance	Probable-Pathogenic
Disease	Retinitis pigmentosa 39 Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Retinitis pigmentosa 39 Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.215847990_215847996delAAGGGAG
CLNSRC
CLNACC	RCV000409412.1, RCV000411819.1,