rs80338904

Orientation

minus

Stabilized

minus

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

Make rs80338904(A;G)

Make rs80338904(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215671085

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs80338904
dbSNP (classic)	rs80338904
ClinGen	rs80338904
ebi	rs80338904
HLI	rs80338904
Exac	rs80338904
Gnomad	rs80338904
Varsome	rs80338904
LitVar	rs80338904
Map	rs80338904
PheGenI	rs80338904
Biobank	rs80338904
1000 genomes	rs80338904
hgdp	rs80338904
ensembl	rs80338904
geneview	rs80338904
scholar	rs80338904
google	rs80338904
pharmgkb	rs80338904
gwascentral	rs80338904
openSNP	rs80338904
23andMe	rs80338904
SNPshot	rs80338904
SNPdbe	rs80338904
MSV3d	rs80338904
GWAS Ctlg	rs80338904

Max Magnitude

0

OMIM	608400
Desc
Variant	0012
Related	also

ClinVar
Risk	rs80338904(G;G)
Alt	rs80338904(G;G)
Reference	Rs80338904(A;A)
Significance	Pathogenic
Disease	Retinitis pigmentosa 39 Retinitis pigmentosa
Variation	info
Gene	USH2A
CLNDBN	Retinitis pigmentosa 39 Retinitis pigmentosa
Reversed	1
HGVS	NC_000001.10:g.215844427T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002458.4, RCV000032522.2,

[PMID 17296898] Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.