rs863224902

Orientation

minus

Stabilized

minus

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

Make rs863224902(-;ATTT)

Make rs863224902(ATTT;ATTT)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

23536680

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs863224902
dbSNP (classic)	rs863224902
ClinGen	rs863224902
ebi	rs863224902
HLI	rs863224902
Exac	rs863224902
Gnomad	rs863224902
Varsome	rs863224902
LitVar	rs863224902
Map	rs863224902
PheGenI	rs863224902
Biobank	rs863224902
1000 genomes	rs863224902
hgdp	rs863224902
ensembl	rs863224902
geneview	rs863224902
scholar	rs863224902
google	rs863224902
pharmgkb	rs863224902
gwascentral	rs863224902
openSNP	rs863224902
23andMe	rs863224902
SNPshot	rs863224902
SNPdbe	rs863224902
MSV3d	rs863224902
GWAS Ctlg	rs863224902

Max Magnitude

0

ClinVar
Risk	rs863224902(ATTT;ATTT)
Alt	rs863224902(ATTT;ATTT)
Reference	Rs863224902(-;-)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21116645_21116648dupAAAT
CLNSRC
CLNACC	RCV000197375.1,