rs120074119

Orientation

plus

Stabilized

plus

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

Make rs120074119(A;A)

Make rs120074119(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6394446

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074119
dbSNP (classic)	rs120074119
ClinGen	rs120074119
ebi	rs120074119
HLI	rs120074119
Exac	rs120074119
Gnomad	rs120074119
Varsome	rs120074119
LitVar	rs120074119
Map	rs120074119
PheGenI	rs120074119
Biobank	rs120074119
1000 genomes	rs120074119
hgdp	rs120074119
ensembl	rs120074119
geneview	rs120074119
scholar	rs120074119
google	rs120074119
pharmgkb	rs120074119
gwascentral	rs120074119
openSNP	rs120074119
23andMe	rs120074119
SNPshot	rs120074119
SNPdbe	rs120074119
MSV3d	rs120074119
GWAS Ctlg	rs120074119

Max Magnitude

0

OMIM	607608
Desc
Variant	0003
Related	also

ClinVar
Risk	rs120074119(A;A)
Alt	rs120074119(A;A)
Reference	Rs120074119(G;G)
Significance	Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6415676G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003116.2,