rs373940701

Orientation

plus

Stabilized

plus

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

Make rs373940701(C;T)

Make rs373940701(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6394459

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs373940701
dbSNP (classic)	rs373940701
ClinGen	rs373940701
ebi	rs373940701
HLI	rs373940701
Exac	rs373940701
Gnomad	rs373940701
Varsome	rs373940701
LitVar	rs373940701
Map	rs373940701
PheGenI	rs373940701
Biobank	rs373940701
1000 genomes	rs373940701
hgdp	rs373940701
ensembl	rs373940701
geneview	rs373940701
scholar	rs373940701
google	rs373940701
pharmgkb	rs373940701
gwascentral	rs373940701
openSNP	rs373940701
23andMe	rs373940701
SNPshot	rs373940701
SNPdbe	rs373940701
MSV3d	rs373940701
GWAS Ctlg	rs373940701

Max Magnitude

0

ClinVar
Risk	rs373940701(A;A) rs373940701(T;T)
Alt	rs373940701(A;A) rs373940701(T;T)
Reference	Rs373940701(C;C)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6415689C>A
CLNSRC
CLNACC	RCV000411576.1,