rs28933687

Orientation

minus

Stabilized

minus

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

Make rs28933687(A;A)

Make rs28933687(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

46853726

Gene

RP2

is a	snp
is	mentioned by
dbSNP	rs28933687
dbSNP (classic)	rs28933687
ClinGen	rs28933687
ebi	rs28933687
HLI	rs28933687
Exac	rs28933687
Gnomad	rs28933687
Varsome	rs28933687
LitVar	rs28933687
Map	rs28933687
PheGenI	rs28933687
Biobank	rs28933687
1000 genomes	rs28933687
hgdp	rs28933687
ensembl	rs28933687
geneview	rs28933687
scholar	rs28933687
google	rs28933687
pharmgkb	rs28933687
gwascentral	rs28933687
openSNP	rs28933687
23andMe	rs28933687
SNPshot	rs28933687
SNPdbe	rs28933687
MSV3d	rs28933687
GWAS Ctlg	rs28933687

Max Magnitude

0

OMIM	312600
Desc	RETINITIS PIGMENTOSA 2, X-LINKED
Variant	0006
Related	also

OMIM	300757
Desc
Variant	0003
Related	also

OMIM	300757
Desc
Variant	0006
Related	also

ClinVar
Risk	rs28933687(A;A) rs28933687(T;T)
Alt	rs28933687(A;A) rs28933687(T;T)
Reference	Rs28933687(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 2
Variation	info
Gene	RP2
CLNDBN	Retinitis pigmentosa 2
Reversed	1
HGVS	NC_000023.10:g.46713161G>A; NC_000023.10:g.46713161G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011292.2, RCV000011295.7,