rs120074123

Orientation

plus

Stabilized

plus

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

Make rs120074123(A;G)

Make rs120074123(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393278

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074123
dbSNP (classic)	rs120074123
ClinGen	rs120074123
ebi	rs120074123
HLI	rs120074123
Exac	rs120074123
Gnomad	rs120074123
Varsome	rs120074123
LitVar	rs120074123
Map	rs120074123
PheGenI	rs120074123
Biobank	rs120074123
1000 genomes	rs120074123
hgdp	rs120074123
ensembl	rs120074123
geneview	rs120074123
scholar	rs120074123
google	rs120074123
pharmgkb	rs120074123
gwascentral	rs120074123
openSNP	rs120074123
23andMe	rs120074123
SNPshot	rs120074123
SNPdbe	rs120074123
MSV3d	rs120074123
GWAS Ctlg	rs120074123

Max Magnitude

0

OMIM	607608
Desc
Variant	0009
Related	also

ClinVar
Risk	rs120074123(G;G)
Alt	rs120074123(G;G)
Reference	Rs120074123(A;A)
Significance	Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B
Reversed	0
HGVS	NC_000011.9:g.6414508A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003122.2,