rs137853290

Orientation

minus

Stabilized

minus

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

Make rs137853290(A;A)

Make rs137853290(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89215133

Gene

RLBP1

is a	snp
is	mentioned by
dbSNP	rs137853290
dbSNP (classic)	rs137853290
ClinGen	rs137853290
ebi	rs137853290
HLI	rs137853290
Exac	rs137853290
Gnomad	rs137853290
Varsome	rs137853290
LitVar	rs137853290
Map	rs137853290
PheGenI	rs137853290
Biobank	rs137853290
1000 genomes	rs137853290
hgdp	rs137853290
ensembl	rs137853290
geneview	rs137853290
scholar	rs137853290
google	rs137853290
pharmgkb	rs137853290
gwascentral	rs137853290
openSNP	rs137853290
23andMe	rs137853290
SNPshot	rs137853290
SNPdbe	rs137853290
MSV3d	rs137853290
GWAS Ctlg	rs137853290

Merged from

Rs28933989

Max Magnitude

0

OMIM	180090
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137853290(A;A) rs137853290(C;C)
Alt	rs137853290(A;A) rs137853290(C;C)
Reference	Rs137853290(G;G)
Significance	Pathogenic
Disease	Pigmentary retinal dystrophy Retinitis punctata albescens
Variation	info
Gene	RLBP1
CLNDBN	Pigmentary retinal dystrophy Retinitis punctata albescens
Reversed	1
HGVS	NC_000015.9:g.89758364C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013973.24, RCV000013974.24,