rs104894880

Orientation

minus

Stabilized

minus

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

Make rs104894880(C;T)

Make rs104894880(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

43950020

Gene

NDP

is a	snp
is	mentioned by
dbSNP	rs104894880
dbSNP (classic)	rs104894880
ClinGen	rs104894880
ebi	rs104894880
HLI	rs104894880
Exac	rs104894880
Gnomad	rs104894880
Varsome	rs104894880
LitVar	rs104894880
Map	rs104894880
PheGenI	rs104894880
Biobank	rs104894880
1000 genomes	rs104894880
hgdp	rs104894880
ensembl	rs104894880
geneview	rs104894880
scholar	rs104894880
google	rs104894880
pharmgkb	rs104894880
gwascentral	rs104894880
openSNP	rs104894880
23andMe	rs104894880
SNPshot	rs104894880
SNPdbe	rs104894880
MSV3d	rs104894880
GWAS Ctlg	rs104894880

Max Magnitude

0

OMIM	300658
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894880(T;T)
Alt	rs104894880(T;T)
Reference	Rs104894880(C;C)
Significance	Pathogenic
Disease	Atrophia bulborum hereditaria
Variation	info
Gene	NDP
CLNDBN	Atrophia bulborum hereditaria
Reversed	1
HGVS	NC_000023.10:g.43809266G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011436.5,