rs120074132

Orientation

minus

Stabilized

minus

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

Make rs120074132(A;A)

Make rs120074132(A;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23539393

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs120074132
dbSNP (classic)	rs120074132
ClinGen	rs120074132
ebi	rs120074132
HLI	rs120074132
Exac	rs120074132
Gnomad	rs120074132
Varsome	rs120074132
LitVar	rs120074132
Map	rs120074132
PheGenI	rs120074132
Biobank	rs120074132
1000 genomes	rs120074132
hgdp	rs120074132
ensembl	rs120074132
geneview	rs120074132
scholar	rs120074132
google	rs120074132
pharmgkb	rs120074132
gwascentral	rs120074132
openSNP	rs120074132
23andMe	rs120074132
SNPshot	rs120074132
SNPdbe	rs120074132
MSV3d	rs120074132
GWAS Ctlg	rs120074132

Max Magnitude

0

OMIM	607623
Desc
Variant	0011
Related	also

ClinVar
Risk	rs120074132(A;A)
Alt	rs120074132(A;A)
Reference	Rs120074132(G;G)
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.21119357C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003102.2,