rs120074121

Orientation

plus

Stabilized

plus

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

Make rs120074121(A;A)

Make rs120074121(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393276

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074121
dbSNP (classic)	rs120074121
ClinGen	rs120074121
ebi	rs120074121
HLI	rs120074121
Exac	rs120074121
Gnomad	rs120074121
Varsome	rs120074121
LitVar	rs120074121
Map	rs120074121
PheGenI	rs120074121
Biobank	rs120074121
1000 genomes	rs120074121
hgdp	rs120074121
ensembl	rs120074121
geneview	rs120074121
scholar	rs120074121
google	rs120074121
pharmgkb	rs120074121
gwascentral	rs120074121
openSNP	rs120074121
23andMe	rs120074121
SNPshot	rs120074121
SNPdbe	rs120074121
MSV3d	rs120074121
GWAS Ctlg	rs120074121

Max Magnitude

0

OMIM	607608
Desc
Variant	0007
Related	also

ClinVar
Risk	rs120074121(A;A)
Alt	rs120074121(A;A)
Reference	Rs120074121(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.6414506G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003120.1,