rs121912598

Orientation

minus

Stabilized

minus

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

Make rs121912598(G;G)

Make rs121912598(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

216364958

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs121912598
dbSNP (classic)	rs121912598
ClinGen	rs121912598
ebi	rs121912598
HLI	rs121912598
Exac	rs121912598
Gnomad	rs121912598
Varsome	rs121912598
LitVar	rs121912598
Map	rs121912598
PheGenI	rs121912598
Biobank	rs121912598
1000 genomes	rs121912598
hgdp	rs121912598
ensembl	rs121912598
geneview	rs121912598
scholar	rs121912598
google	rs121912598
pharmgkb	rs121912598
gwascentral	rs121912598
openSNP	rs121912598
23andMe	rs121912598
SNPshot	rs121912598
SNPdbe	rs121912598
MSV3d	rs121912598
GWAS Ctlg	rs121912598

Max Magnitude

0

OMIM	608400
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912598(G;G)
Alt	rs121912598(G;G)
Reference	Rs121912598(T;T)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.216538300A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002448.3,