rs1057517098

Orientation

plus

Stabilized

plus

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

Make rs1057517098(-;-)

Make rs1057517098(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6390791

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057517098
dbSNP (classic)	rs1057517098
ClinGen	rs1057517098
ebi	rs1057517098
HLI	rs1057517098
Exac	rs1057517098
Gnomad	rs1057517098
Varsome	rs1057517098
LitVar	rs1057517098
Map	rs1057517098
PheGenI	rs1057517098
Biobank	rs1057517098
1000 genomes	rs1057517098
hgdp	rs1057517098
ensembl	rs1057517098
geneview	rs1057517098
scholar	rs1057517098
google	rs1057517098
pharmgkb	rs1057517098
gwascentral	rs1057517098
openSNP	rs1057517098
23andMe	rs1057517098
SNPshot	rs1057517098
SNPdbe	rs1057517098
MSV3d	rs1057517098
GWAS Ctlg	rs1057517098

Max Magnitude

0

ClinVar
Risk	rs1057517098(-;-)
Alt	rs1057517098(-;-)
Reference	Rs1057517098(T;T)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6412021delT
CLNSRC
CLNACC	RCV000410343.1,