rs28933990

Orientation

minus

Stabilized

minus

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

Make rs28933990(C;T)

Make rs28933990(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89210794

Gene

RLBP1

is a	snp
is	mentioned by
dbSNP	rs28933990
dbSNP (classic)	rs28933990
ClinGen	rs28933990
ebi	rs28933990
HLI	rs28933990
Exac	rs28933990
Gnomad	rs28933990
Varsome	rs28933990
LitVar	rs28933990
Map	rs28933990
PheGenI	rs28933990
Biobank	rs28933990
1000 genomes	rs28933990
hgdp	rs28933990
ensembl	rs28933990
geneview	rs28933990
scholar	rs28933990
google	rs28933990
pharmgkb	rs28933990
gwascentral	rs28933990
openSNP	rs28933990
23andMe	rs28933990
SNPshot	rs28933990
SNPdbe	rs28933990
MSV3d	rs28933990
GWAS Ctlg	rs28933990

Max Magnitude

0

OMIM	180090
Desc	BOTHNIA RETINAL DYSTROPHY
Variant	0004
Related	also

ClinVar
Risk	rs28933990(T;T)
Alt	rs28933990(T;T)
Reference	Rs28933990(C;C)
Significance	Pathogenic
Disease	Bothnia retinal dystrophy Retinitis punctata albescens RLBP1-Related Disorders
Variation	info
Gene	RLBP1
CLNDBN	Bothnia retinal dystrophy Retinitis punctata albescens RLBP1-Related Disorders
Reversed	1
HGVS	NC_000015.9:g.89754025G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013978.24, RCV000013979.24, RCV000345884.1,