rs1057516950

Orientation

minus

Stabilized

minus

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

Make rs1057516950(-;-)

Make rs1057516950(-;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23556535

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057516950
dbSNP (classic)	rs1057516950
ClinGen	rs1057516950
ebi	rs1057516950
HLI	rs1057516950
Exac	rs1057516950
Gnomad	rs1057516950
Varsome	rs1057516950
LitVar	rs1057516950
Map	rs1057516950
PheGenI	rs1057516950
Biobank	rs1057516950
1000 genomes	rs1057516950
hgdp	rs1057516950
ensembl	rs1057516950
geneview	rs1057516950
scholar	rs1057516950
google	rs1057516950
pharmgkb	rs1057516950
gwascentral	rs1057516950
openSNP	rs1057516950
23andMe	rs1057516950
SNPshot	rs1057516950
SNPdbe	rs1057516950
MSV3d	rs1057516950
GWAS Ctlg	rs1057516950

Max Magnitude

0

ClinVar
Risk	rs1057516950(-;-)
Alt	rs1057516950(-;-)
Reference	Rs1057516950(TT;TT)
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.21136499_21136500delAA
CLNSRC
CLNACC	RCV000408988.1,