rs398123475

Orientation

plus

Stabilized

plus

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

Make rs398123475(G;G)

Make rs398123475(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393652

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs398123475
dbSNP (classic)	rs398123475
ClinGen	rs398123475
ebi	rs398123475
HLI	rs398123475
Exac	rs398123475
Gnomad	rs398123475
Varsome	rs398123475
LitVar	rs398123475
Map	rs398123475
PheGenI	rs398123475
Biobank	rs398123475
1000 genomes	rs398123475
hgdp	rs398123475
ensembl	rs398123475
geneview	rs398123475
scholar	rs398123475
google	rs398123475
pharmgkb	rs398123475
gwascentral	rs398123475
openSNP	rs398123475
23andMe	rs398123475
SNPshot	rs398123475
SNPdbe	rs398123475
MSV3d	rs398123475
GWAS Ctlg	rs398123475

Max Magnitude

0

ClinVar
Risk	rs398123475(G;G)
Alt	rs398123475(G;G)
Reference	Rs398123475(T;T)
Significance	Probable-Pathogenic
Disease	not provided Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	not provided Niemann-Pick disease, type B
Reversed	0
HGVS	NC_000011.9:g.6414882T>G
CLNSRC	ClinVar Emory University
CLNACC	RCV000079191.3, RCV000178118.2,