rs1057517200

Orientation

plus

Stabilized

plus

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

Make rs1057517200(-;-)

Make rs1057517200(-;GT)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6394208

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057517200
dbSNP (classic)	rs1057517200
ClinGen	rs1057517200
ebi	rs1057517200
HLI	rs1057517200
Exac	rs1057517200
Gnomad	rs1057517200
Varsome	rs1057517200
LitVar	rs1057517200
Map	rs1057517200
PheGenI	rs1057517200
Biobank	rs1057517200
1000 genomes	rs1057517200
hgdp	rs1057517200
ensembl	rs1057517200
geneview	rs1057517200
scholar	rs1057517200
google	rs1057517200
pharmgkb	rs1057517200
gwascentral	rs1057517200
openSNP	rs1057517200
23andMe	rs1057517200
SNPshot	rs1057517200
SNPdbe	rs1057517200
MSV3d	rs1057517200
GWAS Ctlg	rs1057517200

Max Magnitude

0

ClinVar
Risk	rs1057517200(-;-)
Alt	rs1057517200(-;-)
Reference	Rs1057517200(GT;GT)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6415438_6415439delGT
CLNSRC
CLNACC	RCV000411708.1,