rs28942108

Orientation

minus

Stabilized

minus

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

Make rs28942108(C;T)

Make rs28942108(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23538651

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs28942108
dbSNP (classic)	rs28942108
ClinGen	rs28942108
ebi	rs28942108
HLI	rs28942108
Exac	rs28942108
Gnomad	rs28942108
Varsome	rs28942108
LitVar	rs28942108
Map	rs28942108
PheGenI	rs28942108
Biobank	rs28942108
1000 genomes	rs28942108
hgdp	rs28942108
ensembl	rs28942108
geneview	rs28942108
scholar	rs28942108
google	rs28942108
pharmgkb	rs28942108
gwascentral	rs28942108
openSNP	rs28942108
23andMe	rs28942108
SNPshot	rs28942108
SNPdbe	rs28942108
MSV3d	rs28942108
GWAS Ctlg	rs28942108

Max Magnitude

0

OMIM	607623
Desc	Niemann-Pick disease, TYPE C1
Variant	0020
Related	also

ClinVar
Risk	rs28942108(T;T)
Alt	rs28942108(T;T)
Reference	Rs28942108(C;C)
Significance	Other
Disease	Niemann-Pick disease type C1 not provided
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1 not provided
Reversed	1
HGVS	NC_000018.9:g.21118615G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003110.3, RCV000413627.1,