rs104894870

Orientation

minus

Stabilized

minus

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

Make rs104894870(A;G)

Make rs104894870(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

43958515

Gene

NDP

is a	snp
is	mentioned by
dbSNP	rs104894870
dbSNP (classic)	rs104894870
ClinGen	rs104894870
ebi	rs104894870
HLI	rs104894870
Exac	rs104894870
Gnomad	rs104894870
Varsome	rs104894870
LitVar	rs104894870
Map	rs104894870
PheGenI	rs104894870
Biobank	rs104894870
1000 genomes	rs104894870
hgdp	rs104894870
ensembl	rs104894870
geneview	rs104894870
scholar	rs104894870
google	rs104894870
pharmgkb	rs104894870
gwascentral	rs104894870
openSNP	rs104894870
23andMe	rs104894870
SNPshot	rs104894870
SNPdbe	rs104894870
MSV3d	rs104894870
GWAS Ctlg	rs104894870

Max Magnitude

0

OMIM	300658
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894870(G;G)
Alt	rs104894870(G;G)
Reference	Rs104894870(A;A)
Significance	Pathogenic
Disease	Atrophia bulborum hereditaria
Variation	info
Gene	NDP
CLNDBN	Atrophia bulborum hereditaria
Reversed	1
HGVS	NC_000023.10:g.43817761T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011428.2,