rs1057516403

Orientation

plus

Stabilized

plus

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

Make rs1057516403(-;-)

Make rs1057516403(-;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6394496

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057516403
dbSNP (classic)	rs1057516403
ClinGen	rs1057516403
ebi	rs1057516403
HLI	rs1057516403
Exac	rs1057516403
Gnomad	rs1057516403
Varsome	rs1057516403
LitVar	rs1057516403
Map	rs1057516403
PheGenI	rs1057516403
Biobank	rs1057516403
1000 genomes	rs1057516403
hgdp	rs1057516403
ensembl	rs1057516403
geneview	rs1057516403
scholar	rs1057516403
google	rs1057516403
pharmgkb	rs1057516403
gwascentral	rs1057516403
openSNP	rs1057516403
23andMe	rs1057516403
SNPshot	rs1057516403
SNPdbe	rs1057516403
MSV3d	rs1057516403
GWAS Ctlg	rs1057516403

Max Magnitude

0

ClinVar
Risk	rs1057516403(-;-)
Alt	rs1057516403(-;-)
Reference	Rs1057516403(TT;TT)
Significance	Pathogenic
Disease	Niemann-Pick disease not provided
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A not provided
Reversed	0
HGVS	NC_000011.9:g.6415726_6415727delTT
CLNSRC
CLNACC	RCV000411063.1, RCV000412887.1,