rs1057516647

Orientation

minus

Stabilized

minus

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

Make rs1057516647(-;-)

Make rs1057516647(-;TGGAGTT)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23535523

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057516647
dbSNP (classic)	rs1057516647
ClinGen	rs1057516647
ebi	rs1057516647
HLI	rs1057516647
Exac	rs1057516647
Gnomad	rs1057516647
Varsome	rs1057516647
LitVar	rs1057516647
Map	rs1057516647
PheGenI	rs1057516647
Biobank	rs1057516647
1000 genomes	rs1057516647
hgdp	rs1057516647
ensembl	rs1057516647
geneview	rs1057516647
scholar	rs1057516647
google	rs1057516647
pharmgkb	rs1057516647
gwascentral	rs1057516647
openSNP	rs1057516647
23andMe	rs1057516647
SNPshot	rs1057516647
SNPdbe	rs1057516647
MSV3d	rs1057516647
GWAS Ctlg	rs1057516647

Max Magnitude

0

ClinVar
Risk	rs1057516647(-;-)
Alt	rs1057516647(-;-)
Reference	Rs1057516647(TGGAGTT;TGGAGTT)
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.21115487_21115493delAACTCCA
CLNSRC
CLNACC	RCV000412135.1,