rs1057516530

Orientation

plus

Stabilized

plus

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

Make rs1057516530(C;G)

Make rs1057516530(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6394229

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057516530
dbSNP (classic)	rs1057516530
ClinGen	rs1057516530
ebi	rs1057516530
HLI	rs1057516530
Exac	rs1057516530
Gnomad	rs1057516530
Varsome	rs1057516530
LitVar	rs1057516530
Map	rs1057516530
PheGenI	rs1057516530
Biobank	rs1057516530
1000 genomes	rs1057516530
hgdp	rs1057516530
ensembl	rs1057516530
geneview	rs1057516530
scholar	rs1057516530
google	rs1057516530
pharmgkb	rs1057516530
gwascentral	rs1057516530
openSNP	rs1057516530
23andMe	rs1057516530
SNPshot	rs1057516530
SNPdbe	rs1057516530
MSV3d	rs1057516530
GWAS Ctlg	rs1057516530

Max Magnitude

0

ClinVar
Risk	rs1057516530(G;G)
Alt	rs1057516530(G;G)
Reference	Rs1057516530(C;C)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6415459C>G
CLNSRC
CLNACC	RCV000410839.1,