rs1057518942

Orientation

minus

Stabilized

minus

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

Make rs1057518942(C;T)

Make rs1057518942(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23544424

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057518942
dbSNP (classic)	rs1057518942
ClinGen	rs1057518942
ebi	rs1057518942
HLI	rs1057518942
Exac	rs1057518942
Gnomad	rs1057518942
Varsome	rs1057518942
LitVar	rs1057518942
Map	rs1057518942
PheGenI	rs1057518942
Biobank	rs1057518942
1000 genomes	rs1057518942
hgdp	rs1057518942
ensembl	rs1057518942
geneview	rs1057518942
scholar	rs1057518942
google	rs1057518942
pharmgkb	rs1057518942
gwascentral	rs1057518942
openSNP	rs1057518942
23andMe	rs1057518942
SNPshot	rs1057518942
SNPdbe	rs1057518942
MSV3d	rs1057518942
GWAS Ctlg	rs1057518942

Max Magnitude

0

ClinVar
Risk	rs1057518942(T;T)
Alt	rs1057518942(T;T)
Reference	Rs1057518942(C;C)
Significance	Probable-Pathogenic
Disease	Dystonia
Variation	info
Gene	NPC1
CLNDBN	Dystonia
Reversed	1
HGVS	NC_000018.9:g.21124388G>A
CLNSRC
CLNACC	RCV000415070.1,