rs1057516454

Orientation

plus

Stabilized

plus

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

Make rs1057516454(G;T)

Make rs1057516454(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6393616

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057516454
dbSNP (classic)	rs1057516454
ClinGen	rs1057516454
ebi	rs1057516454
HLI	rs1057516454
Exac	rs1057516454
Gnomad	rs1057516454
Varsome	rs1057516454
LitVar	rs1057516454
Map	rs1057516454
PheGenI	rs1057516454
Biobank	rs1057516454
1000 genomes	rs1057516454
hgdp	rs1057516454
ensembl	rs1057516454
geneview	rs1057516454
scholar	rs1057516454
google	rs1057516454
pharmgkb	rs1057516454
gwascentral	rs1057516454
openSNP	rs1057516454
23andMe	rs1057516454
SNPshot	rs1057516454
SNPdbe	rs1057516454
MSV3d	rs1057516454
GWAS Ctlg	rs1057516454

Max Magnitude

0

ClinVar
Risk	rs1057516454(A;A) rs1057516454(T;T)
Alt	rs1057516454(A;A) rs1057516454(T;T)
Reference	Rs1057516454(G;G)
Significance	Pathogenic
Disease	not provided Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	not provided Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6414846G>A; NC_000011.9:g.6414846G>T
CLNSRC
CLNACC	RCV000443668.1, RCV000411029.1,