rs28942105

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0

Make rs28942105(A;G)

Make rs28942105(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23535479

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs28942105
dbSNP (classic)	rs28942105
ClinGen	rs28942105
ebi	rs28942105
HLI	rs28942105
Exac	rs28942105
Gnomad	rs28942105
Varsome	rs28942105
LitVar	rs28942105
Map	rs28942105
PheGenI	rs28942105
Biobank	rs28942105
1000 genomes	rs28942105
hgdp	rs28942105
ensembl	rs28942105
geneview	rs28942105
scholar	rs28942105
google	rs28942105
pharmgkb	rs28942105
gwascentral	rs28942105
openSNP	rs28942105
23andMe	rs28942105
SNPshot	rs28942105
SNPdbe	rs28942105
MSV3d	rs28942105
GWAS Ctlg	rs28942105

Max Magnitude

0

OMIM	607623
Desc	Niemann-Pick disease, TYPE C1
Variant	0003
Related	also

ClinVar
Risk	rs28942105(G;G)
Alt	rs28942105(G;G)
Reference	Rs28942105(A;A)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21115443T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003093.2,