rs1057517149

Orientation

minus

Stabilized

minus

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

Make rs1057517149(-;-)

Make rs1057517149(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23535621

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057517149
dbSNP (classic)	rs1057517149
ClinGen	rs1057517149
ebi	rs1057517149
HLI	rs1057517149
Exac	rs1057517149
Gnomad	rs1057517149
Varsome	rs1057517149
LitVar	rs1057517149
Map	rs1057517149
PheGenI	rs1057517149
Biobank	rs1057517149
1000 genomes	rs1057517149
hgdp	rs1057517149
ensembl	rs1057517149
geneview	rs1057517149
scholar	rs1057517149
google	rs1057517149
pharmgkb	rs1057517149
gwascentral	rs1057517149
openSNP	rs1057517149
23andMe	rs1057517149
SNPshot	rs1057517149
SNPdbe	rs1057517149
MSV3d	rs1057517149
GWAS Ctlg	rs1057517149

Max Magnitude

0

ClinVar
Risk	rs1057517149(-;-)
Alt	rs1057517149(-;-)
Reference	Rs1057517149(A;A)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21115585delT
CLNSRC
CLNACC	RCV000409812.1,