rs794727780

Merged into

rs120074118

Orientation

plus

Stabilized

plus

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

Make rs794727780(-;-)

Make rs794727780(-;GCC)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6394540

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs794727780
dbSNP (classic)	rs794727780
ClinGen	rs794727780
ebi	rs794727780
HLI	rs794727780
Exac	rs794727780
Gnomad	rs794727780
Varsome	rs794727780
LitVar	rs794727780
Map	rs794727780
PheGenI	rs794727780
Biobank	rs794727780
1000 genomes	rs794727780
hgdp	rs794727780
ensembl	rs794727780
geneview	rs794727780
scholar	rs794727780
google	rs794727780
pharmgkb	rs794727780
gwascentral	rs794727780
openSNP	rs794727780
23andMe	rs794727780
SNPshot	rs794727780
SNPdbe	rs794727780
MSV3d	rs794727780
GWAS Ctlg	rs794727780

Status

Merged into rs120074118

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs794727780(GCC;GCC)
Significance	Pathogenic
Disease	Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis
Reversed	0
HGVS	NC_000011.9:g.6415770_6415772delGCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000179325.2, RCV000192229.1,