rs1057517197

Orientation

minus

Stabilized

minus

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

Make rs1057517197(-;-)

Make rs1057517197(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23545146

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057517197
dbSNP (classic)	rs1057517197
ClinGen	rs1057517197
ebi	rs1057517197
HLI	rs1057517197
Exac	rs1057517197
Gnomad	rs1057517197
Varsome	rs1057517197
LitVar	rs1057517197
Map	rs1057517197
PheGenI	rs1057517197
Biobank	rs1057517197
1000 genomes	rs1057517197
hgdp	rs1057517197
ensembl	rs1057517197
geneview	rs1057517197
scholar	rs1057517197
google	rs1057517197
pharmgkb	rs1057517197
gwascentral	rs1057517197
openSNP	rs1057517197
23andMe	rs1057517197
SNPshot	rs1057517197
SNPdbe	rs1057517197
MSV3d	rs1057517197
GWAS Ctlg	rs1057517197

Max Magnitude

0

ClinVar
Risk	rs1057517197(-;-)
Alt	rs1057517197(-;-)
Reference	Rs1057517197(T;T)
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.21125110delA
CLNSRC
CLNACC	RCV000410469.1,