rs1057518711

Orientation

minus

Stabilized

minus

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

Make rs1057518711(-;-)

Make rs1057518711(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23560273

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057518711
dbSNP (classic)	rs1057518711
ClinGen	rs1057518711
ebi	rs1057518711
HLI	rs1057518711
Exac	rs1057518711
Gnomad	rs1057518711
Varsome	rs1057518711
LitVar	rs1057518711
Map	rs1057518711
PheGenI	rs1057518711
Biobank	rs1057518711
1000 genomes	rs1057518711
hgdp	rs1057518711
ensembl	rs1057518711
geneview	rs1057518711
scholar	rs1057518711
google	rs1057518711
pharmgkb	rs1057518711
gwascentral	rs1057518711
openSNP	rs1057518711
23andMe	rs1057518711
SNPshot	rs1057518711
SNPdbe	rs1057518711
MSV3d	rs1057518711
GWAS Ctlg	rs1057518711

Max Magnitude

0

ClinVar
Risk	rs1057518711(-;-)
Alt	rs1057518711(-;-)
Reference	Rs1057518711(T;T)
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.21140237delA
CLNSRC
CLNACC	RCV000415044.1,