rs398123478

Orientation

plus

Stabilized

plus

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

Make rs398123478(C;T)

Make rs398123478(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6394335

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs398123478
dbSNP (classic)	rs398123478
ClinGen	rs398123478
ebi	rs398123478
HLI	rs398123478
Exac	rs398123478
Gnomad	rs398123478
Varsome	rs398123478
LitVar	rs398123478
Map	rs398123478
PheGenI	rs398123478
Biobank	rs398123478
1000 genomes	rs398123478
hgdp	rs398123478
ensembl	rs398123478
geneview	rs398123478
scholar	rs398123478
google	rs398123478
pharmgkb	rs398123478
gwascentral	rs398123478
openSNP	rs398123478
23andMe	rs398123478
SNPshot	rs398123478
SNPdbe	rs398123478
MSV3d	rs398123478
GWAS Ctlg	rs398123478

Max Magnitude

0

ClinVar
Risk	rs398123478(T;T)
Alt	rs398123478(T;T)
Reference	Rs398123478(C;C)
Significance	Pathogenic
Disease	not provided Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	not provided Niemann-Pick disease, type B
Reversed	0
HGVS	NC_000011.9:g.6415565C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000079196.3, RCV000179326.1,