rs120074134

Orientation

minus

Stabilized

minus

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

Make rs120074134(C;C)

Make rs120074134(C;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23556436

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs120074134
dbSNP (classic)	rs120074134
ClinGen	rs120074134
ebi	rs120074134
HLI	rs120074134
Exac	rs120074134
Gnomad	rs120074134
Varsome	rs120074134
LitVar	rs120074134
Map	rs120074134
PheGenI	rs120074134
Biobank	rs120074134
1000 genomes	rs120074134
hgdp	rs120074134
ensembl	rs120074134
geneview	rs120074134
scholar	rs120074134
google	rs120074134
pharmgkb	rs120074134
gwascentral	rs120074134
openSNP	rs120074134
23andMe	rs120074134
SNPshot	rs120074134
SNPdbe	rs120074134
MSV3d	rs120074134
GWAS Ctlg	rs120074134

Max Magnitude

0

OMIM	607623
Desc
Variant	0014
Related	also

ClinVar
Risk	rs120074134(C;C)
Alt	rs120074134(C;C)
Reference	Rs120074134(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.21136400A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003104.3,