rs120074122

Orientation

plus

Stabilized

plus

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

Make rs120074122(A;A)

Make rs120074122(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6391795

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074122
dbSNP (classic)	rs120074122
ClinGen	rs120074122
ebi	rs120074122
HLI	rs120074122
Exac	rs120074122
Gnomad	rs120074122
Varsome	rs120074122
LitVar	rs120074122
Map	rs120074122
PheGenI	rs120074122
Biobank	rs120074122
1000 genomes	rs120074122
hgdp	rs120074122
ensembl	rs120074122
geneview	rs120074122
scholar	rs120074122
google	rs120074122
pharmgkb	rs120074122
gwascentral	rs120074122
openSNP	rs120074122
23andMe	rs120074122
SNPshot	rs120074122
SNPdbe	rs120074122
MSV3d	rs120074122
GWAS Ctlg	rs120074122

Max Magnitude

0

OMIM	607608
Desc
Variant	0008
Related	also

ClinVar
Risk	rs120074122(A;A) rs120074122(T;T)
Alt	rs120074122(A;A) rs120074122(T;T)
Reference	Rs120074122(G;G)
Significance	Pathogenic
Disease	Niemann-Pick disease Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6413025G>A; NC_000011.9:g.6413025G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003121.2, RCV000409705.1,