rs1050239

Orientation

plus

Stabilized

plus

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

Make rs1050239(A;A)

Make rs1050239(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6394233

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1050239
dbSNP (classic)	rs1050239
ClinGen	rs1050239
ebi	rs1050239
HLI	rs1050239
Exac	rs1050239
Gnomad	rs1050239
Varsome	rs1050239
LitVar	rs1050239
Map	rs1050239
PheGenI	rs1050239
Biobank	rs1050239
1000 genomes	rs1050239
hgdp	rs1050239
ensembl	rs1050239
geneview	rs1050239
scholar	rs1050239
google	rs1050239
pharmgkb	rs1050239
gwascentral	rs1050239
openSNP	rs1050239
23andMe	rs1050239
SNPshot	rs1050239
SNPdbe	rs1050239
MSV3d	rs1050239
GWAS Ctlg	rs1050239

GMAF

0.18

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs1050239(A;A) rs1050239(C;C)
Alt	rs1050239(A;A) rs1050239(C;C)
Reference	Rs1050239(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Sphingomyelin/cholesterol lipidosis
Variation	info
Gene	SMPD1
CLNDBN	not specified Sphingomyelin/cholesterol lipidosis
Reversed	0
HGVS	NC_000011.9:g.6415463G>A; NC_000011.9:g.6415463G>C
CLNSRC	ClinVar Emory University
CLNACC	RCV000079195.5, RCV000336908.1, RCV000192218.1,