rs483353056

Orientation

minus

Stabilized

minus

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

Make rs483353056(A;A)

Make rs483353056(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215900194

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs483353056
dbSNP (classic)	rs483353056
ClinGen	rs483353056
ebi	rs483353056
HLI	rs483353056
Exac	rs483353056
Gnomad	rs483353056
Varsome	rs483353056
LitVar	rs483353056
Map	rs483353056
PheGenI	rs483353056
Biobank	rs483353056
1000 genomes	rs483353056
hgdp	rs483353056
ensembl	rs483353056
geneview	rs483353056
scholar	rs483353056
google	rs483353056
pharmgkb	rs483353056
gwascentral	rs483353056
openSNP	rs483353056
23andMe	rs483353056
SNPshot	rs483353056
SNPdbe	rs483353056
MSV3d	rs483353056
GWAS Ctlg	rs483353056

Max Magnitude

0

ClinVar
Risk	rs483353056(A;A) rs483353056(T;T)
Alt	rs483353056(A;A) rs483353056(T;T)
Reference	Rs483353056(C;C)
Significance	Pathogenic
Disease	not specified Usher syndrome not provided
Variation	info
Gene	USH2A
CLNDBN	not specified Usher syndrome, type 2A not provided
Reversed	1
HGVS	NC_000001.10:g.216073536G>A; NC_000001.10:g.216073536G>T
CLNSRC	ClinVar
CLNACC	RCV000373313.1, RCV000119825.1, RCV000444053.1,