rs1057516854

Orientation

plus

Stabilized

plus

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

Make rs1057516854(A;A)

Make rs1057516854(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6393895

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057516854
dbSNP (classic)	rs1057516854
ClinGen	rs1057516854
ebi	rs1057516854
HLI	rs1057516854
Exac	rs1057516854
Gnomad	rs1057516854
Varsome	rs1057516854
LitVar	rs1057516854
Map	rs1057516854
PheGenI	rs1057516854
Biobank	rs1057516854
1000 genomes	rs1057516854
hgdp	rs1057516854
ensembl	rs1057516854
geneview	rs1057516854
scholar	rs1057516854
google	rs1057516854
pharmgkb	rs1057516854
gwascentral	rs1057516854
openSNP	rs1057516854
23andMe	rs1057516854
SNPshot	rs1057516854
SNPdbe	rs1057516854
MSV3d	rs1057516854
GWAS Ctlg	rs1057516854

Max Magnitude

0

ClinVar
Risk	rs1057516854(A;A) rs1057516854(T;T)
Alt	rs1057516854(A;A) rs1057516854(T;T)
Reference	Rs1057516854(G;G)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6415125G>A; NC_000011.9:g.6415125G>T
CLNSRC
CLNACC	RCV000410948.1, RCV000410844.1,