rs120074118

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CGC)	3	Carrier of a Niemann-Pick disease type A mutation
(CGC;CGC)	0	common in clinvar
(GCC;GCC)	0	common in clinvar
(I;I)	0	common genotype

Make rs120074118(-;-)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6394539

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074118
dbSNP (classic)	rs120074118
ClinGen	rs120074118
ebi	rs120074118
HLI	rs120074118
Exac	rs120074118
Gnomad	rs120074118
Varsome	rs120074118
LitVar	rs120074118
Map	rs120074118
PheGenI	rs120074118
Biobank	rs120074118
1000 genomes	rs120074118
hgdp	rs120074118
ensembl	rs120074118
geneview	rs120074118
scholar	rs120074118
google	rs120074118
pharmgkb	rs120074118
gwascentral	rs120074118
openSNP	rs120074118
23andMe	rs120074118
SNPshot	rs120074118
SNPdbe	rs120074118
MSV3d	rs120074118
GWAS Ctlg	rs120074118

Merged from

Rs794727780

Max Magnitude

3

aka c.1829_1831delGCC (p.Arg610del)

Niemann-Pick Disease Type A

OMIM	607608
Desc
Variant	0002
Related	also

ClinVar
Risk	rs120074118(-;-) Rs120074118(GCC;GCC)
Alt	rs120074118(-;-) Rs120074118(GCC;GCC)
Reference	Rs120074118(CGC;CGC)
Significance	Pathogenic
Disease	Niemann-Pick disease Sphingomyelin/cholesterol lipidosis not provided
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis not provided
Reversed	0
HGVS	NC_000011.9:g.6415770_6415772delGCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000179325.2, RCV000192229.1, RCV000413544.1,