rs120074136

Orientation

minus

Stabilized

minus

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

Make rs120074136(C;C)

Make rs120074136(C;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23568949

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs120074136
dbSNP (classic)	rs120074136
ClinGen	rs120074136
ebi	rs120074136
HLI	rs120074136
Exac	rs120074136
Gnomad	rs120074136
Varsome	rs120074136
LitVar	rs120074136
Map	rs120074136
PheGenI	rs120074136
Biobank	rs120074136
1000 genomes	rs120074136
hgdp	rs120074136
ensembl	rs120074136
geneview	rs120074136
scholar	rs120074136
google	rs120074136
pharmgkb	rs120074136
gwascentral	rs120074136
openSNP	rs120074136
23andMe	rs120074136
SNPshot	rs120074136
SNPdbe	rs120074136
MSV3d	rs120074136
GWAS Ctlg	rs120074136

Max Magnitude

0

OMIM	607623
Desc
Variant	0022
Related	also

ClinVar
Risk	rs120074136(C;C)
Alt	rs120074136(C;C)
Reference	Rs120074136(T;T)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21148913A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003112.3,