rs797044798

Orientation

plus

Stabilized

plus

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

Make rs797044798(C;C)

Make rs797044798(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6391657

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs797044798
dbSNP (classic)	rs797044798
ClinGen	rs797044798
ebi	rs797044798
HLI	rs797044798
Exac	rs797044798
Gnomad	rs797044798
Varsome	rs797044798
LitVar	rs797044798
Map	rs797044798
PheGenI	rs797044798
Biobank	rs797044798
1000 genomes	rs797044798
hgdp	rs797044798
ensembl	rs797044798
geneview	rs797044798
scholar	rs797044798
google	rs797044798
pharmgkb	rs797044798
gwascentral	rs797044798
openSNP	rs797044798
23andMe	rs797044798
SNPshot	rs797044798
SNPdbe	rs797044798
MSV3d	rs797044798
GWAS Ctlg	rs797044798

Max Magnitude

0

ClinVar
Risk	rs797044798(C;C)
Alt	rs797044798(C;C)
Reference	Rs797044798(G;G)
Significance	Pathogenic
Disease	Sphingomyelin/cholesterol lipidosis
Variation	info
Gene	SMPD1
CLNDBN	Sphingomyelin/cholesterol lipidosis
Reversed	0
HGVS	NC_000011.9:g.6412887G>C
CLNSRC
CLNACC	RCV000192220.1,