rs368217569

Orientation

plus

Stabilized

plus

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

Make rs368217569(C;T)

Make rs368217569(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

49549584

Gene

RCBTB1

is a	snp
is	mentioned by
dbSNP	rs368217569
dbSNP (classic)	rs368217569
ClinGen	rs368217569
ebi	rs368217569
HLI	rs368217569
Exac	rs368217569
Gnomad	rs368217569
Varsome	rs368217569
LitVar	rs368217569
Map	rs368217569
PheGenI	rs368217569
Biobank	rs368217569
1000 genomes	rs368217569
hgdp	rs368217569
ensembl	rs368217569
geneview	rs368217569
scholar	rs368217569
google	rs368217569
pharmgkb	rs368217569
gwascentral	rs368217569
openSNP	rs368217569
23andMe	rs368217569
SNPshot	rs368217569
SNPdbe	rs368217569
MSV3d	rs368217569
GWAS Ctlg	rs368217569

Max Magnitude

0

ClinVar
Risk	rs368217569(T;T)
Alt	rs368217569(T;T)
Reference	Rs368217569(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa Retinal dystrophy with or without extraocular anomalies
Variation	info
Gene	RCBTB1
CLNDBN	Retinitis pigmentosa Retinal dystrophy with or without extraocular anomalies
Reversed	0
HGVS	NC_000013.10:g.50123720C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239609.1, RCV000258120.2,