rs120074117

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

6394204

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074117
dbSNP (classic)	rs120074117
ClinGen	rs120074117
ebi	rs120074117
HLI	rs120074117
Exac	rs120074117
Gnomad	rs120074117
Varsome	rs120074117
LitVar	rs120074117
Map	rs120074117
PheGenI	rs120074117
Biobank	rs120074117
1000 genomes	rs120074117
hgdp	rs120074117
ensembl	rs120074117
geneview	rs120074117
scholar	rs120074117
google	rs120074117
pharmgkb	rs120074117
gwascentral	rs120074117
openSNP	rs120074117
23andMe	rs120074117
SNPshot	rs120074117
SNPdbe	rs120074117
MSV3d	rs120074117
GWAS Ctlg	rs120074117

Max Magnitude

5

aka c.1493G>T (p.Arg498Leu or R498L), and due to alternative numbering, also Arg496Leu or R496L); note that ClinVar also lists c.1493G>A (p.Arg498His or R498His, and thus equivalently, Arg496His or R496H). The first is annotated in ClinVar by multiple submitters as pathogenic for Niemann-Pick Disease type A; the latter is annotated as likely pathogenic for Niemann-Pick Disease type B.

Niemann-Pick Disease Type A

OMIM	607608
Desc
Variant	0001
Related	also

ClinVar
Risk	rs120074117(A;A) Rs120074117(T;T)
Alt	rs120074117(A;A) Rs120074117(T;T)
Reference	Rs120074117(G;G)
Significance	Pathogenic
Disease	not provided Niemann-Pick disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation	info
Gene	SMPD1
CLNDBN	not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis
Reversed	0
HGVS	NC_000011.9:g.6415434G>A; NC_000011.9:g.6415434G>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000153983.2, RCV000179324.1, RCV000003114.2, RCV000179327.1, RCV000192227.1, RCV000413382.1,