rs121908140

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	3	Carrier of an Usher syndrome type IIIA mutation
(T;T)	0	common in clinvar

Make rs121908140(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

150928107

Gene

CLRN1

is a	snp
is	mentioned by
dbSNP	rs121908140
dbSNP (classic)	rs121908140
ClinGen	rs121908140
ebi	rs121908140
HLI	rs121908140
Exac	rs121908140
Gnomad	rs121908140
Varsome	rs121908140
LitVar	rs121908140
Map	rs121908140
PheGenI	rs121908140
Biobank	rs121908140
1000 genomes	rs121908140
hgdp	rs121908140
ensembl	rs121908140
geneview	rs121908140
scholar	rs121908140
google	rs121908140
pharmgkb	rs121908140
gwascentral	rs121908140
openSNP	rs121908140
23andMe	rs121908140
SNPshot	rs121908140
SNPdbe	rs121908140
MSV3d	rs121908140
GWAS Ctlg	rs121908140

GMAF

0.0004591

Max Magnitude

3

aka c.567T>G (p.Tyr189Ter or Y189X)

OMIM	606397
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908140(C;C) rs121908140(G;G)
Alt	rs121908140(C;C) rs121908140(G;G)
Reference	Rs121908140(T;T)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	CLRN1
CLNDBN	Usher syndrome, type 3A
Reversed	1
HGVS	NC_000003.11:g.150645894A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004642.4,