rs797044797

Orientation

plus

Stabilized

plus

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

Make rs797044797(C;C)

Make rs797044797(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6391481

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs797044797
dbSNP (classic)	rs797044797
ClinGen	rs797044797
ebi	rs797044797
HLI	rs797044797
Exac	rs797044797
Gnomad	rs797044797
Varsome	rs797044797
LitVar	rs797044797
Map	rs797044797
PheGenI	rs797044797
Biobank	rs797044797
1000 genomes	rs797044797
hgdp	rs797044797
ensembl	rs797044797
geneview	rs797044797
scholar	rs797044797
google	rs797044797
pharmgkb	rs797044797
gwascentral	rs797044797
openSNP	rs797044797
23andMe	rs797044797
SNPshot	rs797044797
SNPdbe	rs797044797
MSV3d	rs797044797
GWAS Ctlg	rs797044797

Max Magnitude

0

ClinVar
Risk	rs797044797(C;C)
Alt	rs797044797(C;C)
Reference	Rs797044797(T;T)
Significance	Pathogenic
Disease	Sphingomyelin/cholesterol lipidosis
Variation	info
Gene	SMPD1
CLNDBN	Sphingomyelin/cholesterol lipidosis
Reversed	0
HGVS	NC_000011.9:g.6412711T>C
CLNSRC
CLNACC	RCV000192219.1,