rs28942104

Orientation

minus

Stabilized

minus

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

Make rs28942104(C;T)

Make rs28942104(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23536811

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs28942104
dbSNP (classic)	rs28942104
ClinGen	rs28942104
ebi	rs28942104
HLI	rs28942104
Exac	rs28942104
Gnomad	rs28942104
Varsome	rs28942104
LitVar	rs28942104
Map	rs28942104
PheGenI	rs28942104
Biobank	rs28942104
1000 genomes	rs28942104
hgdp	rs28942104
ensembl	rs28942104
geneview	rs28942104
scholar	rs28942104
google	rs28942104
pharmgkb	rs28942104
gwascentral	rs28942104
openSNP	rs28942104
23andMe	rs28942104
SNPshot	rs28942104
SNPdbe	rs28942104
MSV3d	rs28942104
GWAS Ctlg	rs28942104

Max Magnitude

0

OMIM	607623
Desc	Niemann-Pick disease, TYPE C1
Variant	0002
Related	also

ClinVar
Risk	rs28942104(T;T)
Alt	rs28942104(T;T)
Reference	Rs28942104(C;C)
Significance	Other
Disease	Niemann-Pick disease type C1 not specified
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1 not specified
Reversed	1
HGVS	NC_000018.9:g.21116775G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003092.4, RCV000176149.1,