rs387906289

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	5	Niemann-Pick Disease Type A
(-;C)	3	Niemann-Pick Disease Type A carrier
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

6392061

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs387906289
dbSNP (classic)	rs387906289
ClinGen	rs387906289
ebi	rs387906289
HLI	rs387906289
Exac	rs387906289
Gnomad	rs387906289
Varsome	rs387906289
LitVar	rs387906289
Map	rs387906289
PheGenI	rs387906289
Biobank	rs387906289
1000 genomes	rs387906289
hgdp	rs387906289
ensembl	rs387906289
geneview	rs387906289
scholar	rs387906289
google	rs387906289
pharmgkb	rs387906289
gwascentral	rs387906289
openSNP	rs387906289
23andMe	rs387906289
SNPshot	rs387906289
SNPdbe	rs387906289
MSV3d	rs387906289
GWAS Ctlg	rs387906289

Max Magnitude

5

aka c.996delC (p.Phe333Serfs)

Niemann-Pick Disease Type A

ClinVar
Risk	Rs387906289(-;-)
Alt	Rs387906289(-;-)
Reference	Rs387906289(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis
Reversed	0
HGVS	NC_000011.9:g.6413291delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003124.2, RCV000192223.1,