rs120074126

Orientation

plus

Stabilized

plus

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

Make rs120074126(C;T)

Make rs120074126(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393620

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074126
dbSNP (classic)	rs120074126
ClinGen	rs120074126
ebi	rs120074126
HLI	rs120074126
Exac	rs120074126
Gnomad	rs120074126
Varsome	rs120074126
LitVar	rs120074126
Map	rs120074126
PheGenI	rs120074126
Biobank	rs120074126
1000 genomes	rs120074126
hgdp	rs120074126
ensembl	rs120074126
geneview	rs120074126
scholar	rs120074126
google	rs120074126
pharmgkb	rs120074126
gwascentral	rs120074126
openSNP	rs120074126
23andMe	rs120074126
SNPshot	rs120074126
SNPdbe	rs120074126
MSV3d	rs120074126
GWAS Ctlg	rs120074126

Max Magnitude

0

OMIM	607608
Desc
Variant	0013
Related	also

ClinVar
Risk	rs120074126(T;T)
Alt	rs120074126(T;T)
Reference	Rs120074126(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease Sphingomyelin/cholesterol lipidosis Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6414850C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003126.2, RCV000192225.1, RCV000411474.1,