rs764472245

Orientation

plus

Stabilized

plus

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

Make rs764472245(A;C)

Make rs764472245(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

23544958

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs764472245
dbSNP (classic)	rs764472245
ClinGen	rs764472245
ebi	rs764472245
HLI	rs764472245
Exac	rs764472245
Gnomad	rs764472245
Varsome	rs764472245
LitVar	rs764472245
Map	rs764472245
PheGenI	rs764472245
Biobank	rs764472245
1000 genomes	rs764472245
hgdp	rs764472245
ensembl	rs764472245
geneview	rs764472245
scholar	rs764472245
google	rs764472245
pharmgkb	rs764472245
gwascentral	rs764472245
openSNP	rs764472245
23andMe	rs764472245
SNPshot	rs764472245
SNPdbe	rs764472245
MSV3d	rs764472245
GWAS Ctlg	rs764472245

Max Magnitude

0

ClinVar
Risk	rs764472245(C;C)
Alt	rs764472245(C;C)
Reference	Rs764472245(A;A)
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.21124922A>C
CLNSRC
CLNACC	RCV000169611.1,