rs397518023

Orientation

minus

Stabilized

minus

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

Make rs397518023(A;A)

Make rs397518023(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

216070293

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs397518023
dbSNP (classic)	rs397518023
ClinGen	rs397518023
ebi	rs397518023
HLI	rs397518023
Exac	rs397518023
Gnomad	rs397518023
Varsome	rs397518023
LitVar	rs397518023
Map	rs397518023
PheGenI	rs397518023
Biobank	rs397518023
1000 genomes	rs397518023
hgdp	rs397518023
ensembl	rs397518023
geneview	rs397518023
scholar	rs397518023
google	rs397518023
pharmgkb	rs397518023
gwascentral	rs397518023
openSNP	rs397518023
23andMe	rs397518023
SNPshot	rs397518023
SNPdbe	rs397518023
MSV3d	rs397518023
GWAS Ctlg	rs397518023

Max Magnitude

0

ClinVar
Risk	rs397518023(A;A)
Alt	rs397518023(A;A)
Reference	Rs397518023(G;G)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.216243635C>T
CLNSRC	ClinVar
CLNACC	RCV000041871.2,