rs28942107

Orientation

minus

Stabilized

minus

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

Make rs28942107(C;T)

Make rs28942107(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23536814

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs28942107
dbSNP (classic)	rs28942107
ClinGen	rs28942107
ebi	rs28942107
HLI	rs28942107
Exac	rs28942107
Gnomad	rs28942107
Varsome	rs28942107
LitVar	rs28942107
Map	rs28942107
PheGenI	rs28942107
Biobank	rs28942107
1000 genomes	rs28942107
hgdp	rs28942107
ensembl	rs28942107
geneview	rs28942107
scholar	rs28942107
google	rs28942107
pharmgkb	rs28942107
gwascentral	rs28942107
openSNP	rs28942107
23andMe	rs28942107
SNPshot	rs28942107
SNPdbe	rs28942107
MSV3d	rs28942107
GWAS Ctlg	rs28942107

Max Magnitude

0

OMIM	607623
Desc	Niemann-Pick disease, TYPE C1
Variant	0016
Related	also

ClinVar
Risk	rs28942107(T;T)
Alt	rs28942107(T;T)
Reference	Rs28942107(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.21116778G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003106.2, RCV000078477.3,