rs797044431

Orientation

minus

Stabilized

minus

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

Make rs797044431(-;-)

Make rs797044431(-;A)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

23536878

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs797044431
dbSNP (classic)	rs797044431
ClinGen	rs797044431
ebi	rs797044431
HLI	rs797044431
Exac	rs797044431
Gnomad	rs797044431
Varsome	rs797044431
LitVar	rs797044431
Map	rs797044431
PheGenI	rs797044431
Biobank	rs797044431
1000 genomes	rs797044431
hgdp	rs797044431
ensembl	rs797044431
geneview	rs797044431
scholar	rs797044431
google	rs797044431
pharmgkb	rs797044431
gwascentral	rs797044431
openSNP	rs797044431
23andMe	rs797044431
SNPshot	rs797044431
SNPdbe	rs797044431
MSV3d	rs797044431
GWAS Ctlg	rs797044431

Max Magnitude

0

ClinVar
Risk	rs797044431(-;-)
Alt	rs797044431(-;-)
Reference	Rs797044431(A;A)
Significance	Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease, type C1, adult form
Reversed	1
HGVS	NC_000018.9:g.21116842delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003097.3,