rs869312182

Orientation

minus

Stabilized

minus

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

Make rs869312182(A;A)

Make rs869312182(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

216000442

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs869312182
dbSNP (classic)	rs869312182
ClinGen	rs869312182
ebi	rs869312182
HLI	rs869312182
Exac	rs869312182
Gnomad	rs869312182
Varsome	rs869312182
LitVar	rs869312182
Map	rs869312182
PheGenI	rs869312182
Biobank	rs869312182
1000 genomes	rs869312182
hgdp	rs869312182
ensembl	rs869312182
geneview	rs869312182
scholar	rs869312182
google	rs869312182
pharmgkb	rs869312182
gwascentral	rs869312182
openSNP	rs869312182
23andMe	rs869312182
SNPshot	rs869312182
SNPdbe	rs869312182
MSV3d	rs869312182
GWAS Ctlg	rs869312182

Max Magnitude

0

ClinVar
Risk	rs869312182(A;A)
Alt	rs869312182(A;A)
Reference	Rs869312182(C;C)
Significance	Probable-Pathogenic
Disease	Usher syndrome Retinal dystrophy
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A Retinal dystrophy
Reversed	1
HGVS	NC_000001.10:g.216173784G>T
CLNSRC
CLNACC	RCV000210323.1, RCV000225553.1,