rs182812968

Orientation

plus

Stabilized

plus

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

Make rs182812968(C;T)

Make rs182812968(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393981

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs182812968
dbSNP (classic)	rs182812968
ClinGen	rs182812968
ebi	rs182812968
HLI	rs182812968
Exac	rs182812968
Gnomad	rs182812968
Varsome	rs182812968
LitVar	rs182812968
Map	rs182812968
PheGenI	rs182812968
Biobank	rs182812968
1000 genomes	rs182812968
hgdp	rs182812968
ensembl	rs182812968
geneview	rs182812968
scholar	rs182812968
google	rs182812968
pharmgkb	rs182812968
gwascentral	rs182812968
openSNP	rs182812968
23andMe	rs182812968
SNPshot	rs182812968
SNPdbe	rs182812968
MSV3d	rs182812968
GWAS Ctlg	rs182812968

Max Magnitude

0

ClinVar
Risk	rs182812968(T;T)
Alt	rs182812968(T;T)
Reference	Rs182812968(C;C)
Significance	Pathogenic
Disease	not provided Niemann-Pick disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation	info
Gene	SMPD1
CLNDBN	not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis
Reversed	0
HGVS	NC_000011.9:g.6415211C>T
CLNSRC	HGMD
CLNACC	RCV000079193.3, RCV000169170.1, RCV000178791.1, RCV000192226.1, RCV000214418.1,