rs120074124

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

6391976

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074124
dbSNP (classic)	rs120074124
ClinGen	rs120074124
ebi	rs120074124
HLI	rs120074124
Exac	rs120074124
Gnomad	rs120074124
Varsome	rs120074124
LitVar	rs120074124
Map	rs120074124
PheGenI	rs120074124
Biobank	rs120074124
1000 genomes	rs120074124
hgdp	rs120074124
ensembl	rs120074124
geneview	rs120074124
scholar	rs120074124
google	rs120074124
pharmgkb	rs120074124
gwascentral	rs120074124
openSNP	rs120074124
23andMe	rs120074124
SNPshot	rs120074124
SNPdbe	rs120074124
MSV3d	rs120074124
GWAS Ctlg	rs120074124

Max Magnitude

5

aka c.911T>C (p.Leu304Pro or L304P)

Niemann-Pick Disease Type A

OMIM	607608
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs120074124(C;C)
Alt	Rs120074124(C;C)
Reference	Rs120074124(T;T)
Significance	Pathogenic
Disease	Niemann-Pick disease not provided Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A not provided Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis
Reversed	0
HGVS	NC_000011.9:g.6413206T>C
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000003123.1, RCV000079200.3, RCV000175622.1, RCV000192222.1,