rs104894651

Orientation

minus

Stabilized

minus

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

Make rs104894651(C;C)

Make rs104894651(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

74922931

Gene	OTOP2, USH1G

is a	snp
is	mentioned by
dbSNP	rs104894651
dbSNP (classic)	rs104894651
ClinGen	rs104894651
ebi	rs104894651
HLI	rs104894651
Exac	rs104894651
Gnomad	rs104894651
Varsome	rs104894651
LitVar	rs104894651
Map	rs104894651
PheGenI	rs104894651
Biobank	rs104894651
1000 genomes	rs104894651
hgdp	rs104894651
ensembl	rs104894651
geneview	rs104894651
scholar	rs104894651
google	rs104894651
pharmgkb	rs104894651
gwascentral	rs104894651
openSNP	rs104894651
23andMe	rs104894651
SNPshot	rs104894651
SNPdbe	rs104894651
MSV3d	rs104894651
GWAS Ctlg	rs104894651

Max Magnitude

0

OMIM	607696
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894651(C;C)
Alt	rs104894651(C;C)
Reference	Rs104894651(T;T)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH1G OTOP2
CLNDBN	Usher syndrome, type 1G
Reversed	1
HGVS	NC_000017.10:g.72919026A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003048.3,