rs397518029

Orientation

minus

Stabilized

minus

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

Make rs397518029(C;G)

Make rs397518029(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215934672

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs397518029
dbSNP (classic)	rs397518029
ClinGen	rs397518029
ebi	rs397518029
HLI	rs397518029
Exac	rs397518029
Gnomad	rs397518029
Varsome	rs397518029
LitVar	rs397518029
Map	rs397518029
PheGenI	rs397518029
Biobank	rs397518029
1000 genomes	rs397518029
hgdp	rs397518029
ensembl	rs397518029
geneview	rs397518029
scholar	rs397518029
google	rs397518029
pharmgkb	rs397518029
gwascentral	rs397518029
openSNP	rs397518029
23andMe	rs397518029
SNPshot	rs397518029
SNPdbe	rs397518029
MSV3d	rs397518029
GWAS Ctlg	rs397518029

Max Magnitude

0

ClinVar
Risk	rs397518029(G;G)
Alt	rs397518029(G;G)
Reference	Rs397518029(C;C)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.216108014G>C
CLNSRC	ClinVar
CLNACC	RCV000041905.2,