rs377130051

Orientation

plus

Stabilized

plus

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

Make rs377130051(G;T)

Make rs377130051(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

18

Position

23545088

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs377130051
dbSNP (classic)	rs377130051
ClinGen	rs377130051
ebi	rs377130051
HLI	rs377130051
Exac	rs377130051
Gnomad	rs377130051
Varsome	rs377130051
LitVar	rs377130051
Map	rs377130051
PheGenI	rs377130051
Biobank	rs377130051
1000 genomes	rs377130051
hgdp	rs377130051
ensembl	rs377130051
geneview	rs377130051
scholar	rs377130051
google	rs377130051
pharmgkb	rs377130051
gwascentral	rs377130051
openSNP	rs377130051
23andMe	rs377130051
SNPshot	rs377130051
SNPdbe	rs377130051
MSV3d	rs377130051
GWAS Ctlg	rs377130051

Max Magnitude

0

ClinVar
Risk	rs377130051(A;A) rs377130051(T;T)
Alt	rs377130051(A;A) rs377130051(T;T)
Reference	Rs377130051(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	NPC1
CLNDBN	not provided
Reversed	0
HGVS	NC_000018.9:g.21125052G>A
CLNSRC
CLNACC	RCV000255864.1,