rs139751448

Orientation

plus

Stabilized

plus

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

Make rs139751448(C;T)

Make rs139751448(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

23556358

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs139751448
dbSNP (classic)	rs139751448
ClinGen	rs139751448
ebi	rs139751448
HLI	rs139751448
Exac	rs139751448
Gnomad	rs139751448
Varsome	rs139751448
LitVar	rs139751448
Map	rs139751448
PheGenI	rs139751448
Biobank	rs139751448
1000 genomes	rs139751448
hgdp	rs139751448
ensembl	rs139751448
geneview	rs139751448
scholar	rs139751448
google	rs139751448
pharmgkb	rs139751448
gwascentral	rs139751448
openSNP	rs139751448
23andMe	rs139751448
SNPshot	rs139751448
SNPdbe	rs139751448
MSV3d	rs139751448
GWAS Ctlg	rs139751448

Max Magnitude

0

ClinVar
Risk	rs139751448(T;T)
Alt	rs139751448(T;T)
Reference	Rs139751448(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1 not provided
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1 not provided
Reversed	0
HGVS	NC_000018.9:g.21136322C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169124.1, RCV000255152.2,