rs121912599

Orientation

minus

Stabilized

minus

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

Make rs121912599(A;A)

Make rs121912599(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

216325492

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs121912599
dbSNP (classic)	rs121912599
ClinGen	rs121912599
ebi	rs121912599
HLI	rs121912599
Exac	rs121912599
Gnomad	rs121912599
Varsome	rs121912599
LitVar	rs121912599
Map	rs121912599
PheGenI	rs121912599
Biobank	rs121912599
1000 genomes	rs121912599
hgdp	rs121912599
ensembl	rs121912599
geneview	rs121912599
scholar	rs121912599
google	rs121912599
pharmgkb	rs121912599
gwascentral	rs121912599
openSNP	rs121912599
23andMe	rs121912599
SNPshot	rs121912599
SNPdbe	rs121912599
MSV3d	rs121912599
GWAS Ctlg	rs121912599

Max Magnitude

0

OMIM	608400
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912599(A;A)
Alt	rs121912599(A;A)
Reference	Rs121912599(G;G)
Significance	Pathogenic
Disease	Usher syndrome not specified
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A not specified
Reversed	1
HGVS	NC_000001.10:g.216498834C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002449.3, RCV000303941.1,