rs28940897

Orientation

minus

Stabilized

minus

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

Make rs28940897(A;C)

Make rs28940897(C;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23539823

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs28940897
dbSNP (classic)	rs28940897
ClinGen	rs28940897
ebi	rs28940897
HLI	rs28940897
Exac	rs28940897
Gnomad	rs28940897
Varsome	rs28940897
LitVar	rs28940897
Map	rs28940897
PheGenI	rs28940897
Biobank	rs28940897
1000 genomes	rs28940897
hgdp	rs28940897
ensembl	rs28940897
geneview	rs28940897
scholar	rs28940897
google	rs28940897
pharmgkb	rs28940897
gwascentral	rs28940897
openSNP	rs28940897
23andMe	rs28940897
SNPshot	rs28940897
SNPdbe	rs28940897
MSV3d	rs28940897
GWAS Ctlg	rs28940897

Max Magnitude

0

OMIM	607623
Desc	Niemann-Pick disease, TYPE C1
Variant	0001
Related	also

ClinVar
Risk	rs28940897(C;C)
Alt	rs28940897(C;C)
Reference	Rs28940897(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.21119787T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003091.2,