rs1057517390

Orientation

plus

Stabilized

plus

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

Make rs1057517390(-;-)

Make rs1057517390(-;TCTG)

Make rs1057517390(TCTG;TCTG)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6393652

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057517390
dbSNP (classic)	rs1057517390
ClinGen	rs1057517390
ebi	rs1057517390
HLI	rs1057517390
Exac	rs1057517390
Gnomad	rs1057517390
Varsome	rs1057517390
LitVar	rs1057517390
Map	rs1057517390
PheGenI	rs1057517390
Biobank	rs1057517390
1000 genomes	rs1057517390
hgdp	rs1057517390
ensembl	rs1057517390
geneview	rs1057517390
scholar	rs1057517390
google	rs1057517390
pharmgkb	rs1057517390
gwascentral	rs1057517390
openSNP	rs1057517390
23andMe	rs1057517390
SNPshot	rs1057517390
SNPdbe	rs1057517390
MSV3d	rs1057517390
GWAS Ctlg	rs1057517390

Max Magnitude

0

ClinVar
Risk	rs1057517390(-;-)
Alt	rs1057517390(-;-)
Reference	Rs1057517390(CTGT;CTGT)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6414882_6414885delTCTG
CLNSRC
CLNACC	RCV000409661.1,