rs374526072

Orientation

plus

Stabilized

plus

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

Make rs374526072(C;T)

Make rs374526072(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

23535681

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs374526072
dbSNP (classic)	rs374526072
ClinGen	rs374526072
ebi	rs374526072
HLI	rs374526072
Exac	rs374526072
Gnomad	rs374526072
Varsome	rs374526072
LitVar	rs374526072
Map	rs374526072
PheGenI	rs374526072
Biobank	rs374526072
1000 genomes	rs374526072
hgdp	rs374526072
ensembl	rs374526072
geneview	rs374526072
scholar	rs374526072
google	rs374526072
pharmgkb	rs374526072
gwascentral	rs374526072
openSNP	rs374526072
23andMe	rs374526072
SNPshot	rs374526072
SNPdbe	rs374526072
MSV3d	rs374526072
GWAS Ctlg	rs374526072

Max Magnitude

0

ClinVar
Risk	rs374526072(T;T)
Alt	rs374526072(T;T)
Reference	Rs374526072(C;C)
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.21115645C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000158973.1,