rs756366019

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(D;D)	0	common genotype
(G;G)	0	common in clinvar

Make rs756366019(-;T)

Make rs756366019(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6391623

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs756366019
dbSNP (classic)	rs756366019
ClinGen	rs756366019
ebi	rs756366019
HLI	rs756366019
Exac	rs756366019
Gnomad	rs756366019
Varsome	rs756366019
LitVar	rs756366019
Map	rs756366019
PheGenI	rs756366019
Biobank	rs756366019
1000 genomes	rs756366019
hgdp	rs756366019
ensembl	rs756366019
geneview	rs756366019
scholar	rs756366019
google	rs756366019
pharmgkb	rs756366019
gwascentral	rs756366019
openSNP	rs756366019
23andMe	rs756366019
SNPshot	rs756366019
SNPdbe	rs756366019
MSV3d	rs756366019
GWAS Ctlg	rs756366019

Max Magnitude

0

ClinVar
Risk	rs756366019(C;C) rs756366019(T;T)
Alt	rs756366019(C;C) rs756366019(T;T)
Reference	Rs756366019(-;-)
Significance	Pathogenic
Disease	Niemann-Pick disease Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A Niemann-Pick disease, type B
Reversed	0
HGVS	NC_000011.9:g.6412853_6412854insT
CLNSRC
CLNACC	RCV000175628.1, RCV000175629.1,