rs372030650

Orientation

plus

Stabilized

plus

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

Make rs372030650(A;A)

Make rs372030650(A;T)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

23539985

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs372030650
dbSNP (classic)	rs372030650
ClinGen	rs372030650
ebi	rs372030650
HLI	rs372030650
Exac	rs372030650
Gnomad	rs372030650
Varsome	rs372030650
LitVar	rs372030650
Map	rs372030650
PheGenI	rs372030650
Biobank	rs372030650
1000 genomes	rs372030650
hgdp	rs372030650
ensembl	rs372030650
geneview	rs372030650
scholar	rs372030650
google	rs372030650
pharmgkb	rs372030650
gwascentral	rs372030650
openSNP	rs372030650
23andMe	rs372030650
SNPshot	rs372030650
SNPdbe	rs372030650
MSV3d	rs372030650
GWAS Ctlg	rs372030650

Max Magnitude

0

ClinVar
Risk	rs372030650(A;A)
Alt	rs372030650(A;A)
Reference	Rs372030650(T;T)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	0
HGVS	NC_000018.9:g.21119949T>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000175270.1,