rs120074120

Orientation

plus

Stabilized

plus

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

Make rs120074120(A;A)

Make rs120074120(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6391853

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074120
dbSNP (classic)	rs120074120
ClinGen	rs120074120
ebi	rs120074120
HLI	rs120074120
Exac	rs120074120
Gnomad	rs120074120
Varsome	rs120074120
LitVar	rs120074120
Map	rs120074120
PheGenI	rs120074120
Biobank	rs120074120
1000 genomes	rs120074120
hgdp	rs120074120
ensembl	rs120074120
geneview	rs120074120
scholar	rs120074120
google	rs120074120
pharmgkb	rs120074120
gwascentral	rs120074120
openSNP	rs120074120
23andMe	rs120074120
SNPshot	rs120074120
SNPdbe	rs120074120
MSV3d	rs120074120
GWAS Ctlg	rs120074120

Max Magnitude

0

OMIM	607608
Desc
Variant	0005
Related	also

ClinVar
Risk	rs120074120(A;A)
Alt	rs120074120(A;A)
Reference	Rs120074120(T;T)
Significance	Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6413083T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003118.2,