rs201493928

Orientation

plus

Stabilized

plus

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

Make rs201493928(C;T)

Make rs201493928(T;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

54625068

Gene

RP1

is a	snp
is	mentioned by
dbSNP	rs201493928
dbSNP (classic)	rs201493928
ClinGen	rs201493928
ebi	rs201493928
HLI	rs201493928
Exac	rs201493928
Gnomad	rs201493928
Varsome	rs201493928
LitVar	rs201493928
Map	rs201493928
PheGenI	rs201493928
Biobank	rs201493928
1000 genomes	rs201493928
hgdp	rs201493928
ensembl	rs201493928
geneview	rs201493928
scholar	rs201493928
google	rs201493928
pharmgkb	rs201493928
gwascentral	rs201493928
openSNP	rs201493928
23andMe	rs201493928
SNPshot	rs201493928
SNPdbe	rs201493928
MSV3d	rs201493928
GWAS Ctlg	rs201493928

Max Magnitude

0

ClinVar
Risk	rs201493928(T;T)
Alt	rs201493928(T;T)
Reference	Rs201493928(C;C)
Significance	Probable-Pathogenic
Disease	Retinitis pigmentosa
Variation	info
Gene	RP1
CLNDBN	Retinitis pigmentosa
Reversed	0
HGVS	NC_000008.10:g.55537628C>T
CLNSRC	ClinVar
CLNACC	RCV000132658.1,