rs786204733

Orientation

plus

Stabilized

plus

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

Make rs786204733(-;T)

Make rs786204733(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6391583

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs786204733
dbSNP (classic)	rs786204733
ClinGen	rs786204733
ebi	rs786204733
HLI	rs786204733
Exac	rs786204733
Gnomad	rs786204733
Varsome	rs786204733
LitVar	rs786204733
Map	rs786204733
PheGenI	rs786204733
Biobank	rs786204733
1000 genomes	rs786204733
hgdp	rs786204733
ensembl	rs786204733
geneview	rs786204733
scholar	rs786204733
google	rs786204733
pharmgkb	rs786204733
gwascentral	rs786204733
openSNP	rs786204733
23andMe	rs786204733
SNPshot	rs786204733
SNPdbe	rs786204733
MSV3d	rs786204733
GWAS Ctlg	rs786204733

Max Magnitude

0

ClinVar
Risk	rs786204733(T;T)
Alt	rs786204733(T;T)
Reference	Rs786204733(-;-)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6412813dupT
CLNSRC
CLNACC	RCV000169578.1,