rs267607075

Orientation

plus

Stabilized

plus

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

Make rs267607075(A;A)

Make rs267607075(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6394006

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs267607075
dbSNP (classic)	rs267607075
ClinGen	rs267607075
ebi	rs267607075
HLI	rs267607075
Exac	rs267607075
Gnomad	rs267607075
Varsome	rs267607075
LitVar	rs267607075
Map	rs267607075
PheGenI	rs267607075
Biobank	rs267607075
1000 genomes	rs267607075
hgdp	rs267607075
ensembl	rs267607075
geneview	rs267607075
scholar	rs267607075
google	rs267607075
pharmgkb	rs267607075
gwascentral	rs267607075
openSNP	rs267607075
23andMe	rs267607075
SNPshot	rs267607075
SNPdbe	rs267607075
MSV3d	rs267607075
GWAS Ctlg	rs267607075

Max Magnitude

0

ClinVar
Risk	rs267607075(A;A) rs267607075(T;T)
Alt	rs267607075(A;A) rs267607075(T;T)
Reference	Rs267607075(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6415236C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003130.2,