rs786204714

Orientation

minus

Stabilized

minus

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

Make rs786204714(A;A)

Make rs786204714(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

23539465

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs786204714
dbSNP (classic)	rs786204714
ClinGen	rs786204714
ebi	rs786204714
HLI	rs786204714
Exac	rs786204714
Gnomad	rs786204714
Varsome	rs786204714
LitVar	rs786204714
Map	rs786204714
PheGenI	rs786204714
Biobank	rs786204714
1000 genomes	rs786204714
hgdp	rs786204714
ensembl	rs786204714
geneview	rs786204714
scholar	rs786204714
google	rs786204714
pharmgkb	rs786204714
gwascentral	rs786204714
openSNP	rs786204714
23andMe	rs786204714
SNPshot	rs786204714
SNPdbe	rs786204714
MSV3d	rs786204714
GWAS Ctlg	rs786204714

Max Magnitude

0

ClinVar
Risk	rs786204714(A;A) rs786204714(T;T)
Alt	rs786204714(A;A) rs786204714(T;T)
Reference	Rs786204714(G;G)
Significance	Probable-Pathogenic
Disease	not specified Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	not specified Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21119429C>A; NC_000018.9:g.21119429C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000320917.1, RCV000169530.1,