rs120074125

Orientation

plus

Stabilized

plus

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

Make rs120074125(G;G)

Make rs120074125(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393301

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074125
dbSNP (classic)	rs120074125
ClinGen	rs120074125
ebi	rs120074125
HLI	rs120074125
Exac	rs120074125
Gnomad	rs120074125
Varsome	rs120074125
LitVar	rs120074125
Map	rs120074125
PheGenI	rs120074125
Biobank	rs120074125
1000 genomes	rs120074125
hgdp	rs120074125
ensembl	rs120074125
geneview	rs120074125
scholar	rs120074125
google	rs120074125
pharmgkb	rs120074125
gwascentral	rs120074125
openSNP	rs120074125
23andMe	rs120074125
SNPshot	rs120074125
SNPdbe	rs120074125
MSV3d	rs120074125
GWAS Ctlg	rs120074125

Max Magnitude

0

OMIM	607608
Desc
Variant	0012
Related	also

ClinVar
Risk	rs120074125(G;G)
Alt	rs120074125(G;G)
Reference	Rs120074125(T;T)
Significance	Pathogenic
Disease	Niemann-pick disease Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-pick disease, intermediate, protracted neurovisceral Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6414531T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003125.2, RCV000410490.1,