rs1057517978

Orientation

minus

Stabilized

minus

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

Make rs1057517978(G;G)

Make rs1057517978(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23539417

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057517978
dbSNP (classic)	rs1057517978
ClinGen	rs1057517978
ebi	rs1057517978
HLI	rs1057517978
Exac	rs1057517978
Gnomad	rs1057517978
Varsome	rs1057517978
LitVar	rs1057517978
Map	rs1057517978
PheGenI	rs1057517978
Biobank	rs1057517978
1000 genomes	rs1057517978
hgdp	rs1057517978
ensembl	rs1057517978
geneview	rs1057517978
scholar	rs1057517978
google	rs1057517978
pharmgkb	rs1057517978
gwascentral	rs1057517978
openSNP	rs1057517978
23andMe	rs1057517978
SNPshot	rs1057517978
SNPdbe	rs1057517978
MSV3d	rs1057517978
GWAS Ctlg	rs1057517978

Max Magnitude

0

ClinVar
Risk	rs1057517978(G;G)
Alt	rs1057517978(G;G)
Reference	Rs1057517978(T;T)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	NPC1
CLNDBN	not provided
Reversed	1
HGVS	NC_000018.9:g.21119381A>C
CLNSRC
CLNACC	RCV000414206.1,