rs104894867

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	1	Likely miscall in LivingDNA data
(C;G)	3	Carrier of a Norrie disease mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

43949932

Gene

NDP

is a	snp
is	mentioned by
dbSNP	rs104894867
dbSNP (classic)	rs104894867
ClinGen	rs104894867
ebi	rs104894867
HLI	rs104894867
Exac	rs104894867
Gnomad	rs104894867
Varsome	rs104894867
LitVar	rs104894867
Map	rs104894867
PheGenI	rs104894867
Biobank	rs104894867
1000 genomes	rs104894867
hgdp	rs104894867
ensembl	rs104894867
geneview	rs104894867
scholar	rs104894867
google	rs104894867
pharmgkb	rs104894867
gwascentral	rs104894867
openSNP	rs104894867
23andMe	rs104894867
SNPshot	rs104894867
SNPdbe	rs104894867
MSV3d	rs104894867
GWAS Ctlg	rs104894867

Max Magnitude

3

aka c.269G>C (p.Arg90Pro or R90P)

OMIM	300658
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894867(A;A) Rs104894867(C;C) rs104894867(T;T)
Alt	rs104894867(A;A) Rs104894867(C;C) rs104894867(T;T)
Reference	Rs104894867(G;G)
Significance	Pathogenic
Disease	Atrophia bulborum hereditaria
Variation	info
Gene	NDP
CLNDBN	Atrophia bulborum hereditaria
Reversed	1
HGVS	NC_000023.10:g.43809178C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011425.7,