rs797045113

Orientation

minus

Stabilized

minus

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

Make rs797045113(C;T)

Make rs797045113(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

216175474

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs797045113
dbSNP (classic)	rs797045113
ClinGen	rs797045113
ebi	rs797045113
HLI	rs797045113
Exac	rs797045113
Gnomad	rs797045113
Varsome	rs797045113
LitVar	rs797045113
Map	rs797045113
PheGenI	rs797045113
Biobank	rs797045113
1000 genomes	rs797045113
hgdp	rs797045113
ensembl	rs797045113
geneview	rs797045113
scholar	rs797045113
google	rs797045113
pharmgkb	rs797045113
gwascentral	rs797045113
openSNP	rs797045113
23andMe	rs797045113
SNPshot	rs797045113
SNPdbe	rs797045113
MSV3d	rs797045113
GWAS Ctlg	rs797045113

Max Magnitude

0

ClinVar
Risk	rs797045113(T;T)
Alt	rs797045113(T;T)
Reference	Rs797045113(C;C)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.216348816G>A
CLNSRC
CLNACC	RCV000190638.1,