rs375668376

Orientation

plus

Stabilized

plus

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

Make rs375668376(C;T)

Make rs375668376(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

216073292

Gene	LOC102723833, USH2A

is a	snp
is	mentioned by
dbSNP	rs375668376
dbSNP (classic)	rs375668376
ClinGen	rs375668376
ebi	rs375668376
HLI	rs375668376
Exac	rs375668376
Gnomad	rs375668376
Varsome	rs375668376
LitVar	rs375668376
Map	rs375668376
PheGenI	rs375668376
Biobank	rs375668376
1000 genomes	rs375668376
hgdp	rs375668376
ensembl	rs375668376
geneview	rs375668376
scholar	rs375668376
google	rs375668376
pharmgkb	rs375668376
gwascentral	rs375668376
openSNP	rs375668376
23andMe	rs375668376
SNPshot	rs375668376
SNPdbe	rs375668376
MSV3d	rs375668376
GWAS Ctlg	rs375668376

Max Magnitude

0

ClinVar
Risk	rs375668376(T;T)
Alt	rs375668376(T;T)
Reference	Rs375668376(C;C)
Significance	Probable-Pathogenic
Disease	Usher syndrome
Variation	info
Gene	LOC102723833 USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	0
HGVS	NC_000001.10:g.216246634C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000041861.2,