rs759826138

Orientation

plus

Stabilized

plus

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

Make rs759826138(A;A)

Make rs759826138(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

18

Position

23539394

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs759826138
dbSNP (classic)	rs759826138
ClinGen	rs759826138
ebi	rs759826138
HLI	rs759826138
Exac	rs759826138
Gnomad	rs759826138
Varsome	rs759826138
LitVar	rs759826138
Map	rs759826138
PheGenI	rs759826138
Biobank	rs759826138
1000 genomes	rs759826138
hgdp	rs759826138
ensembl	rs759826138
geneview	rs759826138
scholar	rs759826138
google	rs759826138
pharmgkb	rs759826138
gwascentral	rs759826138
openSNP	rs759826138
23andMe	rs759826138
SNPshot	rs759826138
SNPdbe	rs759826138
MSV3d	rs759826138
GWAS Ctlg	rs759826138

Max Magnitude

0

ClinVar
Risk	rs759826138(A;A)
Alt	rs759826138(A;A)
Reference	Rs759826138(G;G)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	0
HGVS	NC_000018.9:g.21119358G>A
CLNSRC
CLNACC	RCV000279978.1,