rs786204514

Orientation

plus

Stabilized

plus

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

Make rs786204514(-;-)

Make rs786204514(-;CT)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6393235

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs786204514
dbSNP (classic)	rs786204514
ClinGen	rs786204514
ebi	rs786204514
HLI	rs786204514
Exac	rs786204514
Gnomad	rs786204514
Varsome	rs786204514
LitVar	rs786204514
Map	rs786204514
PheGenI	rs786204514
Biobank	rs786204514
1000 genomes	rs786204514
hgdp	rs786204514
ensembl	rs786204514
geneview	rs786204514
scholar	rs786204514
google	rs786204514
pharmgkb	rs786204514
gwascentral	rs786204514
openSNP	rs786204514
23andMe	rs786204514
SNPshot	rs786204514
SNPdbe	rs786204514
MSV3d	rs786204514
GWAS Ctlg	rs786204514

Max Magnitude

0

ClinVar
Risk	rs786204514(-;-)
Alt	rs786204514(-;-)
Reference	Rs786204514(CT;CT)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6414465_6414466delCT
CLNSRC
CLNACC	RCV000169205.1,