rs727504166

Orientation

plus

Stabilized

plus

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

Make rs727504166(C;C)

Make rs727504166(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

6391540

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs727504166
dbSNP (classic)	rs727504166
ClinGen	rs727504166
ebi	rs727504166
HLI	rs727504166
Exac	rs727504166
Gnomad	rs727504166
Varsome	rs727504166
LitVar	rs727504166
Map	rs727504166
PheGenI	rs727504166
Biobank	rs727504166
1000 genomes	rs727504166
hgdp	rs727504166
ensembl	rs727504166
geneview	rs727504166
scholar	rs727504166
google	rs727504166
pharmgkb	rs727504166
gwascentral	rs727504166
openSNP	rs727504166
23andMe	rs727504166
SNPshot	rs727504166
SNPdbe	rs727504166
MSV3d	rs727504166
GWAS Ctlg	rs727504166

Max Magnitude

0

ClinVar
Risk	rs727504166(C;C)
Alt	rs727504166(C;C)
Reference	Rs727504166(T;T)
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.6412770T>C
CLNSRC	HGMD
CLNACC	RCV000153979.3, RCV000153980.3,