rs398123479

Orientation

plus

Stabilized

plus

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

Make rs398123479(C;C)

Make rs398123479(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6391822

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs398123479
dbSNP (classic)	rs398123479
ClinGen	rs398123479
ebi	rs398123479
HLI	rs398123479
Exac	rs398123479
Gnomad	rs398123479
Varsome	rs398123479
LitVar	rs398123479
Map	rs398123479
PheGenI	rs398123479
Biobank	rs398123479
1000 genomes	rs398123479
hgdp	rs398123479
ensembl	rs398123479
geneview	rs398123479
scholar	rs398123479
google	rs398123479
pharmgkb	rs398123479
gwascentral	rs398123479
openSNP	rs398123479
23andMe	rs398123479
SNPshot	rs398123479
SNPdbe	rs398123479
MSV3d	rs398123479
GWAS Ctlg	rs398123479

Max Magnitude

0

ClinVar
Risk	rs398123479(C;C)
Alt	rs398123479(C;C)
Reference	Rs398123479(G;G)
Significance	Pathogenic
Disease	Niemann-Pick disease Niemann-Pick disease not provided
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B Niemann-Pick disease, type A not provided
Reversed	0
HGVS	NC_000011.9:g.6413052G>C
CLNSRC	HGMD
CLNACC	RCV000079198.4, RCV000175626.1, RCV000414126.1,