rs28933685

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0

Make rs28933685(A;G)

Make rs28933685(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

43958645

Gene

NDP

is a	snp
is	mentioned by
dbSNP	rs28933685
dbSNP (classic)	rs28933685
ClinGen	rs28933685
ebi	rs28933685
HLI	rs28933685
Exac	rs28933685
Gnomad	rs28933685
Varsome	rs28933685
LitVar	rs28933685
Map	rs28933685
PheGenI	rs28933685
Biobank	rs28933685
1000 genomes	rs28933685
hgdp	rs28933685
ensembl	rs28933685
geneview	rs28933685
scholar	rs28933685
google	rs28933685
pharmgkb	rs28933685
gwascentral	rs28933685
openSNP	rs28933685
23andMe	rs28933685
SNPshot	rs28933685
SNPdbe	rs28933685
MSV3d	rs28933685
GWAS Ctlg	rs28933685

Max Magnitude

0

OMIM	310600
Desc	NORRIE DISEASE
Variant	0009
Related	also

OMIM	300658
Desc
Variant	0009
Related	also

ClinVar
Risk	rs28933685(G;G)
Alt	rs28933685(G;G)
Reference	Rs28933685(A;A)
Significance	Pathogenic
Disease	Atrophia bulborum hereditaria
Variation	info
Gene	NDP
CLNDBN	Atrophia bulborum hereditaria
Reversed	1
HGVS	NC_000023.10:g.43817891T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011433.2,