rs104894868

Orientation

minus

Stabilized

minus

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

Make rs104894868(C;G)

Make rs104894868(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

43949977

Gene

NDP

is a	snp
is	mentioned by
dbSNP	rs104894868
dbSNP (classic)	rs104894868
ClinGen	rs104894868
ebi	rs104894868
HLI	rs104894868
Exac	rs104894868
Gnomad	rs104894868
Varsome	rs104894868
LitVar	rs104894868
Map	rs104894868
PheGenI	rs104894868
Biobank	rs104894868
1000 genomes	rs104894868
hgdp	rs104894868
ensembl	rs104894868
geneview	rs104894868
scholar	rs104894868
google	rs104894868
pharmgkb	rs104894868
gwascentral	rs104894868
openSNP	rs104894868
23andMe	rs104894868
SNPshot	rs104894868
SNPdbe	rs104894868
MSV3d	rs104894868
GWAS Ctlg	rs104894868

Max Magnitude

0

OMIM	300658
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894868(G;G)
Alt	rs104894868(G;G)
Reference	Rs104894868(C;C)
Significance	Pathogenic
Disease	Atrophia bulborum hereditaria
Variation	info
Gene	NDP
CLNDBN	Atrophia bulborum hereditaria
Reversed	1
HGVS	NC_000023.10:g.43809223G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011426.2,