rs769904764

Orientation

plus

Stabilized

plus

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

Make rs769904764(C;T)

Make rs769904764(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6394203

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs769904764
dbSNP (classic)	rs769904764
ClinGen	rs769904764
ebi	rs769904764
HLI	rs769904764
Exac	rs769904764
Gnomad	rs769904764
Varsome	rs769904764
LitVar	rs769904764
Map	rs769904764
PheGenI	rs769904764
Biobank	rs769904764
1000 genomes	rs769904764
hgdp	rs769904764
ensembl	rs769904764
geneview	rs769904764
scholar	rs769904764
google	rs769904764
pharmgkb	rs769904764
gwascentral	rs769904764
openSNP	rs769904764
23andMe	rs769904764
SNPshot	rs769904764
SNPdbe	rs769904764
MSV3d	rs769904764
GWAS Ctlg	rs769904764

Max Magnitude

0

ClinVar
Risk	rs769904764(T;T)
Alt	rs769904764(T;T)
Reference	Rs769904764(C;C)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B
Reversed	0
HGVS	NC_000011.9:g.6415433C>T
CLNSRC
CLNACC	RCV000179329.1,