rs1057518613

Orientation

minus

Stabilized

minus

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

Make rs1057518613(-;-)

Make rs1057518613(-;CT)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23541392

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057518613
dbSNP (classic)	rs1057518613
ClinGen	rs1057518613
ebi	rs1057518613
HLI	rs1057518613
Exac	rs1057518613
Gnomad	rs1057518613
Varsome	rs1057518613
LitVar	rs1057518613
Map	rs1057518613
PheGenI	rs1057518613
Biobank	rs1057518613
1000 genomes	rs1057518613
hgdp	rs1057518613
ensembl	rs1057518613
geneview	rs1057518613
scholar	rs1057518613
google	rs1057518613
pharmgkb	rs1057518613
gwascentral	rs1057518613
openSNP	rs1057518613
23andMe	rs1057518613
SNPshot	rs1057518613
SNPdbe	rs1057518613
MSV3d	rs1057518613
GWAS Ctlg	rs1057518613

Max Magnitude

0

ClinVar
Risk	rs1057518613(-;-)
Alt	rs1057518613(-;-)
Reference	Rs1057518613(CT;CT)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	NPC1
CLNDBN	not provided
Reversed	1
HGVS	NC_000018.9:g.21121356_21121357delAG
CLNSRC
CLNACC	RCV000414321.1,