rs1057516432

Orientation

plus

Stabilized

plus

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

Make rs1057516432(-;-)

Make rs1057516432(-;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6393269

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057516432
dbSNP (classic)	rs1057516432
ClinGen	rs1057516432
ebi	rs1057516432
HLI	rs1057516432
Exac	rs1057516432
Gnomad	rs1057516432
Varsome	rs1057516432
LitVar	rs1057516432
Map	rs1057516432
PheGenI	rs1057516432
Biobank	rs1057516432
1000 genomes	rs1057516432
hgdp	rs1057516432
ensembl	rs1057516432
geneview	rs1057516432
scholar	rs1057516432
google	rs1057516432
pharmgkb	rs1057516432
gwascentral	rs1057516432
openSNP	rs1057516432
23andMe	rs1057516432
SNPshot	rs1057516432
SNPdbe	rs1057516432
MSV3d	rs1057516432
GWAS Ctlg	rs1057516432

Max Magnitude

0

ClinVar
Risk	rs1057516432(-;-)
Alt	rs1057516432(-;-)
Reference	Rs1057516432(TC;TC)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6414499_6414500delTC
CLNSRC
CLNACC	RCV000411726.1,