rs111033417

Orientation

minus

Stabilized

minus

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

Make rs111033417(A;A)

Make rs111033417(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215674598

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs111033417
dbSNP (classic)	rs111033417
ClinGen	rs111033417
ebi	rs111033417
HLI	rs111033417
Exac	rs111033417
Gnomad	rs111033417
Varsome	rs111033417
LitVar	rs111033417
Map	rs111033417
PheGenI	rs111033417
Biobank	rs111033417
1000 genomes	rs111033417
hgdp	rs111033417
ensembl	rs111033417
geneview	rs111033417
scholar	rs111033417
google	rs111033417
pharmgkb	rs111033417
gwascentral	rs111033417
openSNP	rs111033417
23andMe	rs111033417
SNPshot	rs111033417
SNPdbe	rs111033417
MSV3d	rs111033417
GWAS Ctlg	rs111033417

Max Magnitude

0

ClinVar
Risk	rs111033417(A;A)
Alt	rs111033417(A;A)
Reference	Rs111033417(G;G)
Significance	Probable-Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.215847940C>T
CLNSRC	ClinVar
CLNACC	RCV000041739.2,