rs397518046

Orientation

minus

Stabilized

minus

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

Make rs397518046(C;T)

Make rs397518046(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215838058

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs397518046
dbSNP (classic)	rs397518046
ClinGen	rs397518046
ebi	rs397518046
HLI	rs397518046
Exac	rs397518046
Gnomad	rs397518046
Varsome	rs397518046
LitVar	rs397518046
Map	rs397518046
PheGenI	rs397518046
Biobank	rs397518046
1000 genomes	rs397518046
hgdp	rs397518046
ensembl	rs397518046
geneview	rs397518046
scholar	rs397518046
google	rs397518046
pharmgkb	rs397518046
gwascentral	rs397518046
openSNP	rs397518046
23andMe	rs397518046
SNPshot	rs397518046
SNPdbe	rs397518046
MSV3d	rs397518046
GWAS Ctlg	rs397518046

Max Magnitude

0

ClinVar
Risk	rs397518046(T;T)
Alt	rs397518046(T;T)
Reference	Rs397518046(C;C)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.216011400G>A
CLNSRC	ClinVar
CLNACC	RCV000041947.2,