rs104894652

Orientation

minus

Stabilized

minus

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

Make rs104894652(A;A)

Make rs104894652(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

74922961

Gene	OTOP2, USH1G

is a	snp
is	mentioned by
dbSNP	rs104894652
dbSNP (classic)	rs104894652
ClinGen	rs104894652
ebi	rs104894652
HLI	rs104894652
Exac	rs104894652
Gnomad	rs104894652
Varsome	rs104894652
LitVar	rs104894652
Map	rs104894652
PheGenI	rs104894652
Biobank	rs104894652
1000 genomes	rs104894652
hgdp	rs104894652
ensembl	rs104894652
geneview	rs104894652
scholar	rs104894652
google	rs104894652
pharmgkb	rs104894652
gwascentral	rs104894652
openSNP	rs104894652
23andMe	rs104894652
SNPshot	rs104894652
SNPdbe	rs104894652
MSV3d	rs104894652
GWAS Ctlg	rs104894652

Max Magnitude

0

OMIM	607696
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894652(A;A)
Alt	rs104894652(A;A)
Reference	Rs104894652(G;G)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH1G OTOP2
CLNDBN	Usher syndrome, type 1G
Reversed	1
HGVS	NC_000017.10:g.72919056C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003052.3,