rs104894877

Orientation

minus

Stabilized

minus

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

Make rs104894877(C;G)

Make rs104894877(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

43949913

Gene

NDP

is a	snp
is	mentioned by
dbSNP	rs104894877
dbSNP (classic)	rs104894877
ClinGen	rs104894877
ebi	rs104894877
HLI	rs104894877
Exac	rs104894877
Gnomad	rs104894877
Varsome	rs104894877
LitVar	rs104894877
Map	rs104894877
PheGenI	rs104894877
Biobank	rs104894877
1000 genomes	rs104894877
hgdp	rs104894877
ensembl	rs104894877
geneview	rs104894877
scholar	rs104894877
google	rs104894877
pharmgkb	rs104894877
gwascentral	rs104894877
openSNP	rs104894877
23andMe	rs104894877
SNPshot	rs104894877
SNPdbe	rs104894877
MSV3d	rs104894877
GWAS Ctlg	rs104894877

Max Magnitude

0

OMIM	300658
Desc
Variant	0018
Related	also

ClinVar
Risk	rs104894877(G;G)
Alt	rs104894877(G;G)
Reference	Rs104894877(C;C)
Significance	Pathogenic
Disease	Atrophia bulborum hereditaria
Variation	info
Gene	NDP
CLNDBN	Atrophia bulborum hereditaria
Reversed	1
HGVS	NC_000023.10:g.43809159G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011442.2,