rs104894458

Orientation

minus

Stabilized

minus

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

Make rs104894458(C;T)

Make rs104894458(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74484420

Gene

NPC2

is a	snp
is	mentioned by
dbSNP	rs104894458
dbSNP (classic)	rs104894458
ClinGen	rs104894458
ebi	rs104894458
HLI	rs104894458
Exac	rs104894458
Gnomad	rs104894458
Varsome	rs104894458
LitVar	rs104894458
Map	rs104894458
PheGenI	rs104894458
Biobank	rs104894458
1000 genomes	rs104894458
hgdp	rs104894458
ensembl	rs104894458
geneview	rs104894458
scholar	rs104894458
google	rs104894458
pharmgkb	rs104894458
gwascentral	rs104894458
openSNP	rs104894458
23andMe	rs104894458
SNPshot	rs104894458
SNPdbe	rs104894458
MSV3d	rs104894458
GWAS Ctlg	rs104894458

Max Magnitude

0

OMIM	601015
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894458(T;T)
Alt	rs104894458(T;T)
Reference	Rs104894458(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease type C2
Variation	info
Gene	NPC2
CLNDBN	Niemann-Pick disease type C2
Reversed	1
HGVS	NC_000014.8:g.74951123G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009007.3,