rs398123474

Orientation

plus

Stabilized

plus

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

Make rs398123474(C;C)

Make rs398123474(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393215

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs398123474
dbSNP (classic)	rs398123474
ClinGen	rs398123474
ebi	rs398123474
HLI	rs398123474
Exac	rs398123474
Gnomad	rs398123474
Varsome	rs398123474
LitVar	rs398123474
Map	rs398123474
PheGenI	rs398123474
Biobank	rs398123474
1000 genomes	rs398123474
hgdp	rs398123474
ensembl	rs398123474
geneview	rs398123474
scholar	rs398123474
google	rs398123474
pharmgkb	rs398123474
gwascentral	rs398123474
openSNP	rs398123474
23andMe	rs398123474
SNPshot	rs398123474
SNPdbe	rs398123474
MSV3d	rs398123474
GWAS Ctlg	rs398123474

Max Magnitude

0

ClinVar
Risk	rs398123474(C;C)
Alt	rs398123474(C;C)
Reference	Rs398123474(G;G)
Significance	Pathogenic
Disease	not provided Niemann-Pick disease Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	not provided Niemann-Pick disease, type B Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6414445G>C
CLNSRC	HGMD
CLNACC	RCV000079190.3, RCV000177083.2, RCV000410331.1,