rs28933684

Orientation

minus

Stabilized

minus

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

Make rs28933684(C;T)

Make rs28933684(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

43949831

Gene

NDP

is a	snp
is	mentioned by
dbSNP	rs28933684
dbSNP (classic)	rs28933684
ClinGen	rs28933684
ebi	rs28933684
HLI	rs28933684
Exac	rs28933684
Gnomad	rs28933684
Varsome	rs28933684
LitVar	rs28933684
Map	rs28933684
PheGenI	rs28933684
Biobank	rs28933684
1000 genomes	rs28933684
hgdp	rs28933684
ensembl	rs28933684
geneview	rs28933684
scholar	rs28933684
google	rs28933684
pharmgkb	rs28933684
gwascentral	rs28933684
openSNP	rs28933684
23andMe	rs28933684
SNPshot	rs28933684
SNPdbe	rs28933684
MSV3d	rs28933684
GWAS Ctlg	rs28933684

Max Magnitude

0

OMIM	310600
Desc	EXUDATIVE VITREORETINOPATHY, X-LINKED
Variant	0006
Related	also

OMIM	300658
Desc
Variant	0006
Related	also

ClinVar
Risk	rs28933684(T;T)
Alt	rs28933684(T;T)
Reference	Rs28933684(C;C)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	NDP
CLNDBN	Familial exudative vitreoretinopathy, X-linked
Reversed	1
HGVS	NC_000023.10:g.43809077G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011430.5,