rs727504165

Orientation

plus

Stabilized

plus

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

Make rs727504165(-;-)

Make rs727504165(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

6391419

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs727504165
dbSNP (classic)	rs727504165
ClinGen	rs727504165
ebi	rs727504165
HLI	rs727504165
Exac	rs727504165
Gnomad	rs727504165
Varsome	rs727504165
LitVar	rs727504165
Map	rs727504165
PheGenI	rs727504165
Biobank	rs727504165
1000 genomes	rs727504165
hgdp	rs727504165
ensembl	rs727504165
geneview	rs727504165
scholar	rs727504165
google	rs727504165
pharmgkb	rs727504165
gwascentral	rs727504165
openSNP	rs727504165
23andMe	rs727504165
SNPshot	rs727504165
SNPdbe	rs727504165
MSV3d	rs727504165
GWAS Ctlg	rs727504165

Max Magnitude

0

ClinVar
Risk	rs727504165(-;-)
Alt	rs727504165(-;-)
Reference	Rs727504165(C;C)
Significance	Pathogenic
Disease	not provided Niemann-Pick disease Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	not provided Niemann-Pick disease, type B Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6412649delC
CLNSRC
CLNACC	RCV000153978.2, RCV000175624.1, RCV000410051.1,