rs727504031

Orientation

minus

Stabilized

minus

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

Make rs727504031(C;T)

Make rs727504031(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

43949981

Gene

NDP

is a	snp
is	mentioned by
dbSNP	rs727504031
dbSNP (classic)	rs727504031
ClinGen	rs727504031
ebi	rs727504031
HLI	rs727504031
Exac	rs727504031
Gnomad	rs727504031
Varsome	rs727504031
LitVar	rs727504031
Map	rs727504031
PheGenI	rs727504031
Biobank	rs727504031
1000 genomes	rs727504031
hgdp	rs727504031
ensembl	rs727504031
geneview	rs727504031
scholar	rs727504031
google	rs727504031
pharmgkb	rs727504031
gwascentral	rs727504031
openSNP	rs727504031
23andMe	rs727504031
SNPshot	rs727504031
SNPdbe	rs727504031
MSV3d	rs727504031
GWAS Ctlg	rs727504031

Max Magnitude

0

ClinVar
Risk	rs727504031(T;T)
Alt	rs727504031(T;T)
Reference	Rs727504031(C;C)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy Atrophia bulborum hereditaria
Variation	info
Gene	NDP
CLNDBN	Familial exudative vitreoretinopathy, X-linked Atrophia bulborum hereditaria
Reversed	1
HGVS	NC_000023.10:g.43809227G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000153537.3, RCV000153538.4,