rs104893793

Orientation

plus

Stabilized

plus

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

Make rs104893793(A;A)

Make rs104893793(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

129531005

Gene

RHO

is a	snp
is	mentioned by
dbSNP	rs104893793
dbSNP (classic)	rs104893793
ClinGen	rs104893793
ebi	rs104893793
HLI	rs104893793
Exac	rs104893793
Gnomad	rs104893793
Varsome	rs104893793
LitVar	rs104893793
Map	rs104893793
PheGenI	rs104893793
Biobank	rs104893793
1000 genomes	rs104893793
hgdp	rs104893793
ensembl	rs104893793
geneview	rs104893793
scholar	rs104893793
google	rs104893793
pharmgkb	rs104893793
gwascentral	rs104893793
openSNP	rs104893793
23andMe	rs104893793
SNPshot	rs104893793
SNPdbe	rs104893793
MSV3d	rs104893793
GWAS Ctlg	rs104893793

Max Magnitude

0

OMIM	180380
Desc
Variant	0037
Related	also

ClinVar
Risk	rs104893793(A;A) rs104893793(T;T)
Alt	rs104893793(A;A) rs104893793(T;T)
Reference	Rs104893793(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 4 Congenital stationary night blindness
Variation	info
Gene	RHO
CLNDBN	Retinitis pigmentosa 4 Congenital stationary night blindness, autosomal dominant 1
Reversed	0
HGVS	NC_000003.11:g.129249848C>A; NC_000003.11:g.129249848C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013924.23, RCV000477900.1,