rs797044800

Orientation

plus

Stabilized

plus

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

Make rs797044800(A;A)

Make rs797044800(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6392141

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs797044800
dbSNP (classic)	rs797044800
ClinGen	rs797044800
ebi	rs797044800
HLI	rs797044800
Exac	rs797044800
Gnomad	rs797044800
Varsome	rs797044800
LitVar	rs797044800
Map	rs797044800
PheGenI	rs797044800
Biobank	rs797044800
1000 genomes	rs797044800
hgdp	rs797044800
ensembl	rs797044800
geneview	rs797044800
scholar	rs797044800
google	rs797044800
pharmgkb	rs797044800
gwascentral	rs797044800
openSNP	rs797044800
23andMe	rs797044800
SNPshot	rs797044800
SNPdbe	rs797044800
MSV3d	rs797044800
GWAS Ctlg	rs797044800

Max Magnitude

0

ClinVar
Risk	rs797044800(A;A)
Alt	rs797044800(A;A)
Reference	Rs797044800(C;C)
Significance	Pathogenic
Disease	Sphingomyelin/cholesterol lipidosis
Variation	info
Gene	SMPD1
CLNDBN	Sphingomyelin/cholesterol lipidosis
Reversed	0
HGVS	NC_000011.9:g.6413371C>A
CLNSRC
CLNACC	RCV000192224.1,