rs143124972

Orientation

plus

Stabilized

plus

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

Make rs143124972(A;A)

Make rs143124972(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

23539447

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs143124972
dbSNP (classic)	rs143124972
ClinGen	rs143124972
ebi	rs143124972
HLI	rs143124972
Exac	rs143124972
Gnomad	rs143124972
Varsome	rs143124972
LitVar	rs143124972
Map	rs143124972
PheGenI	rs143124972
Biobank	rs143124972
1000 genomes	rs143124972
hgdp	rs143124972
ensembl	rs143124972
geneview	rs143124972
scholar	rs143124972
google	rs143124972
pharmgkb	rs143124972
gwascentral	rs143124972
openSNP	rs143124972
23andMe	rs143124972
SNPshot	rs143124972
SNPdbe	rs143124972
MSV3d	rs143124972
GWAS Ctlg	rs143124972

Max Magnitude

0

ClinVar
Risk	rs143124972(A;A)
Alt	rs143124972(A;A)
Reference	Rs143124972(G;G)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	0
HGVS	NC_000018.9:g.21119411G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169010.1,