rs267607073

Orientation

plus

Stabilized

plus

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

Make rs267607073(A;A)

Make rs267607073(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393667

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs267607073
dbSNP (classic)	rs267607073
ClinGen	rs267607073
ebi	rs267607073
HLI	rs267607073
Exac	rs267607073
Gnomad	rs267607073
Varsome	rs267607073
LitVar	rs267607073
Map	rs267607073
PheGenI	rs267607073
Biobank	rs267607073
1000 genomes	rs267607073
hgdp	rs267607073
ensembl	rs267607073
geneview	rs267607073
scholar	rs267607073
google	rs267607073
pharmgkb	rs267607073
gwascentral	rs267607073
openSNP	rs267607073
23andMe	rs267607073
SNPshot	rs267607073
SNPdbe	rs267607073
MSV3d	rs267607073
GWAS Ctlg	rs267607073

Max Magnitude

0

ClinVar
Risk	rs267607073(A;A)
Alt	rs267607073(A;A)
Reference	Rs267607073(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B
Reversed	0
HGVS	NC_000011.9:g.6414897C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003117.2,