rs398123476

Orientation

plus

Stabilized

plus

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

Make rs398123476(-;-)

Make rs398123476(-;CT)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393975

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs398123476
dbSNP (classic)	rs398123476
ClinGen	rs398123476
ebi	rs398123476
HLI	rs398123476
Exac	rs398123476
Gnomad	rs398123476
Varsome	rs398123476
LitVar	rs398123476
Map	rs398123476
PheGenI	rs398123476
Biobank	rs398123476
1000 genomes	rs398123476
hgdp	rs398123476
ensembl	rs398123476
geneview	rs398123476
scholar	rs398123476
google	rs398123476
pharmgkb	rs398123476
gwascentral	rs398123476
openSNP	rs398123476
23andMe	rs398123476
SNPshot	rs398123476
SNPdbe	rs398123476
MSV3d	rs398123476
GWAS Ctlg	rs398123476

Max Magnitude

0

ClinVar
Risk	rs398123476(-;-)
Alt	rs398123476(-;-)
Reference	Rs398123476(CT;CT)
Significance	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.6415205_6415206delCT
CLNSRC	ClinVar
CLNACC	RCV000079192.3, RCV000178789.1,