rs199605265

Orientation

plus

Stabilized

plus

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

Make rs199605265(C;T)

Make rs199605265(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

215675336

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs199605265
dbSNP (classic)	rs199605265
ClinGen	rs199605265
ebi	rs199605265
HLI	rs199605265
Exac	rs199605265
Gnomad	rs199605265
Varsome	rs199605265
LitVar	rs199605265
Map	rs199605265
PheGenI	rs199605265
Biobank	rs199605265
1000 genomes	rs199605265
hgdp	rs199605265
ensembl	rs199605265
geneview	rs199605265
scholar	rs199605265
google	rs199605265
pharmgkb	rs199605265
gwascentral	rs199605265
openSNP	rs199605265
23andMe	rs199605265
SNPshot	rs199605265
SNPdbe	rs199605265
MSV3d	rs199605265
GWAS Ctlg	rs199605265

Max Magnitude

0

ClinVar
Risk	rs199605265(T;T)
Alt	rs199605265(T;T)
Reference	Rs199605265(C;C)
Significance	Pathogenic
Disease	not specified Retinitis pigmentosa 39 Usher syndrome not provided
Variation	info
Gene	USH2A
CLNDBN	not specified Retinitis pigmentosa 39 Usher syndrome, type 2A not provided
Reversed	0
HGVS	NC_000001.10:g.215848678C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000152569.1, RCV000179627.1, RCV000393129.1, RCV000480057.1,