rs587779408

Orientation

plus

Stabilized

plus

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

Make rs587779408(A;A)

Make rs587779408(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

6391804

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs587779408
dbSNP (classic)	rs587779408
ClinGen	rs587779408
ebi	rs587779408
HLI	rs587779408
Exac	rs587779408
Gnomad	rs587779408
Varsome	rs587779408
LitVar	rs587779408
Map	rs587779408
PheGenI	rs587779408
Biobank	rs587779408
1000 genomes	rs587779408
hgdp	rs587779408
ensembl	rs587779408
geneview	rs587779408
scholar	rs587779408
google	rs587779408
pharmgkb	rs587779408
gwascentral	rs587779408
openSNP	rs587779408
23andMe	rs587779408
SNPshot	rs587779408
SNPdbe	rs587779408
MSV3d	rs587779408
GWAS Ctlg	rs587779408

Max Magnitude

0

ClinVar
Risk	rs587779408(A;A)
Alt	rs587779408(A;A)
Reference	Rs587779408(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 6 Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Ceroid lipofuscinosis neuronal 6 Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6413034G>A
CLNSRC
CLNACC	RCV000087097.1, RCV000169278.1,