rs121912600

Orientation

minus

Stabilized

minus

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

Make rs121912600(G;T)

Make rs121912600(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

216324240

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs121912600
dbSNP (classic)	rs121912600
ClinGen	rs121912600
ebi	rs121912600
HLI	rs121912600
Exac	rs121912600
Gnomad	rs121912600
Varsome	rs121912600
LitVar	rs121912600
Map	rs121912600
PheGenI	rs121912600
Biobank	rs121912600
1000 genomes	rs121912600
hgdp	rs121912600
ensembl	rs121912600
geneview	rs121912600
scholar	rs121912600
google	rs121912600
pharmgkb	rs121912600
gwascentral	rs121912600
openSNP	rs121912600
23andMe	rs121912600
SNPshot	rs121912600
SNPdbe	rs121912600
MSV3d	rs121912600
GWAS Ctlg	rs121912600

Max Magnitude

0

OMIM	608400
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121912600(T;T)
Alt	rs121912600(T;T)
Reference	Rs121912600(G;G)
Significance	Pathogenic
Disease	Usher syndrome not provided
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A not provided
Reversed	1
HGVS	NC_000001.10:g.216497582C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002453.6, RCV000224697.1,