rs1057519382

Orientation

minus

Stabilized

minus

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

Make rs1057519382(G;G)

Make rs1057519382(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

215798944

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs1057519382
dbSNP (classic)	rs1057519382
ClinGen	rs1057519382
ebi	rs1057519382
HLI	rs1057519382
Exac	rs1057519382
Gnomad	rs1057519382
Varsome	rs1057519382
LitVar	rs1057519382
Map	rs1057519382
PheGenI	rs1057519382
Biobank	rs1057519382
1000 genomes	rs1057519382
hgdp	rs1057519382
ensembl	rs1057519382
geneview	rs1057519382
scholar	rs1057519382
google	rs1057519382
pharmgkb	rs1057519382
gwascentral	rs1057519382
openSNP	rs1057519382
23andMe	rs1057519382
SNPshot	rs1057519382
SNPdbe	rs1057519382
MSV3d	rs1057519382
GWAS Ctlg	rs1057519382

Max Magnitude

0

ClinVar
Risk	rs1057519382(G;G)
Alt	rs1057519382(G;G)
Reference	Rs1057519382(T;T)
Significance	Probable-Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 1
Reversed	1
HGVS	NC_000001.10:g.215972286A>C
CLNSRC
CLNACC	RCV000216234.1,