rs397518008

Orientation

minus

Stabilized

minus

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

Make rs397518008(-;-)

Make rs397518008(-;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

216232048

Gene	LOC105372918, USH2A

is a	snp
is	mentioned by
dbSNP	rs397518008
dbSNP (classic)	rs397518008
ClinGen	rs397518008
ebi	rs397518008
HLI	rs397518008
Exac	rs397518008
Gnomad	rs397518008
Varsome	rs397518008
LitVar	rs397518008
Map	rs397518008
PheGenI	rs397518008
Biobank	rs397518008
1000 genomes	rs397518008
hgdp	rs397518008
ensembl	rs397518008
geneview	rs397518008
scholar	rs397518008
google	rs397518008
pharmgkb	rs397518008
gwascentral	rs397518008
openSNP	rs397518008
23andMe	rs397518008
SNPshot	rs397518008
SNPdbe	rs397518008
MSV3d	rs397518008
GWAS Ctlg	rs397518008

Max Magnitude

0

ClinVar
Risk	rs397518008(-;-)
Alt	rs397518008(-;-)
Reference	Rs397518008(G;G)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.216405390delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002446.4,