rs1057517194

Orientation

minus

Stabilized

minus

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

Make rs1057517194(-;T)

Make rs1057517194(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23535636

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057517194
dbSNP (classic)	rs1057517194
ClinGen	rs1057517194
ebi	rs1057517194
HLI	rs1057517194
Exac	rs1057517194
Gnomad	rs1057517194
Varsome	rs1057517194
LitVar	rs1057517194
Map	rs1057517194
PheGenI	rs1057517194
Biobank	rs1057517194
1000 genomes	rs1057517194
hgdp	rs1057517194
ensembl	rs1057517194
geneview	rs1057517194
scholar	rs1057517194
google	rs1057517194
pharmgkb	rs1057517194
gwascentral	rs1057517194
openSNP	rs1057517194
23andMe	rs1057517194
SNPshot	rs1057517194
SNPdbe	rs1057517194
MSV3d	rs1057517194
GWAS Ctlg	rs1057517194

Max Magnitude

0

ClinVar
Risk	rs1057517194(T;T)
Alt	rs1057517194(T;T)
Reference	Rs1057517194(-;-)
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.21115601dupA
CLNSRC
CLNACC	RCV000410068.1,