rs1057516483

Orientation

plus

Stabilized

plus

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

Make rs1057516483(C;T)

Make rs1057516483(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6391753

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057516483
dbSNP (classic)	rs1057516483
ClinGen	rs1057516483
ebi	rs1057516483
HLI	rs1057516483
Exac	rs1057516483
Gnomad	rs1057516483
Varsome	rs1057516483
LitVar	rs1057516483
Map	rs1057516483
PheGenI	rs1057516483
Biobank	rs1057516483
1000 genomes	rs1057516483
hgdp	rs1057516483
ensembl	rs1057516483
geneview	rs1057516483
scholar	rs1057516483
google	rs1057516483
pharmgkb	rs1057516483
gwascentral	rs1057516483
openSNP	rs1057516483
23andMe	rs1057516483
SNPshot	rs1057516483
SNPdbe	rs1057516483
MSV3d	rs1057516483
GWAS Ctlg	rs1057516483

Max Magnitude

0

ClinVar
Risk	rs1057516483(T;T)
Alt	rs1057516483(T;T)
Reference	Rs1057516483(C;C)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6412983C>T
CLNSRC
CLNACC	RCV000409293.1,