rs120074135

Orientation

minus

Stabilized

minus

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

Make rs120074135(A;A)

Make rs120074135(A;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23539418

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs120074135
dbSNP (classic)	rs120074135
ClinGen	rs120074135
ebi	rs120074135
HLI	rs120074135
Exac	rs120074135
Gnomad	rs120074135
Varsome	rs120074135
LitVar	rs120074135
Map	rs120074135
PheGenI	rs120074135
Biobank	rs120074135
1000 genomes	rs120074135
hgdp	rs120074135
ensembl	rs120074135
geneview	rs120074135
scholar	rs120074135
google	rs120074135
pharmgkb	rs120074135
gwascentral	rs120074135
openSNP	rs120074135
23andMe	rs120074135
SNPshot	rs120074135
SNPdbe	rs120074135
MSV3d	rs120074135
GWAS Ctlg	rs120074135

Max Magnitude

0

OMIM	607623
Desc
Variant	0015
Related	also

ClinVar
Risk	rs120074135(A;A)
Alt	rs120074135(A;A)
Reference	Rs120074135(G;G)
Significance	Other
Disease	Niemann-Pick disease type C1 not provided
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1 not provided
Reversed	1
HGVS	NC_000018.9:g.21119382C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003105.6, RCV000212760.2,