rs267607074

Orientation

plus

Stabilized

plus

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

Make rs267607074(A;C)

Make rs267607074(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393961

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs267607074
dbSNP (classic)	rs267607074
ClinGen	rs267607074
ebi	rs267607074
HLI	rs267607074
Exac	rs267607074
Gnomad	rs267607074
Varsome	rs267607074
LitVar	rs267607074
Map	rs267607074
PheGenI	rs267607074
Biobank	rs267607074
1000 genomes	rs267607074
hgdp	rs267607074
ensembl	rs267607074
geneview	rs267607074
scholar	rs267607074
google	rs267607074
pharmgkb	rs267607074
gwascentral	rs267607074
openSNP	rs267607074
23andMe	rs267607074
SNPshot	rs267607074
SNPdbe	rs267607074
MSV3d	rs267607074
GWAS Ctlg	rs267607074

Max Magnitude

0

ClinVar
Risk	rs267607074(C;C)
Alt	rs267607074(C;C)
Reference	Rs267607074(A;A)
Significance	Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6415191A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003131.2,