rs80358252

Orientation

minus

Stabilized

minus

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

Make rs80358252(A;A)

Make rs80358252(A;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23561461

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs80358252
dbSNP (classic)	rs80358252
ClinGen	rs80358252
ebi	rs80358252
HLI	rs80358252
Exac	rs80358252
Gnomad	rs80358252
Varsome	rs80358252
LitVar	rs80358252
Map	rs80358252
PheGenI	rs80358252
Biobank	rs80358252
1000 genomes	rs80358252
hgdp	rs80358252
ensembl	rs80358252
geneview	rs80358252
scholar	rs80358252
google	rs80358252
pharmgkb	rs80358252
gwascentral	rs80358252
openSNP	rs80358252
23andMe	rs80358252
SNPshot	rs80358252
SNPdbe	rs80358252
MSV3d	rs80358252
GWAS Ctlg	rs80358252

Max Magnitude

0

OMIM	607623
Desc
Variant	0018
Related	also

ClinVar
Risk	rs80358252(A;A)
Alt	rs80358252(A;A)
Reference	Rs80358252(G;G)
Significance	Other
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21141425C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003108.5,

[PMID 16098014] Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.