rs1057516722

Orientation

plus

Stabilized

plus

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

Make rs1057516722(A;A)

Make rs1057516722(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6390766

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057516722
dbSNP (classic)	rs1057516722
ClinGen	rs1057516722
ebi	rs1057516722
HLI	rs1057516722
Exac	rs1057516722
Gnomad	rs1057516722
Varsome	rs1057516722
LitVar	rs1057516722
Map	rs1057516722
PheGenI	rs1057516722
Biobank	rs1057516722
1000 genomes	rs1057516722
hgdp	rs1057516722
ensembl	rs1057516722
geneview	rs1057516722
scholar	rs1057516722
google	rs1057516722
pharmgkb	rs1057516722
gwascentral	rs1057516722
openSNP	rs1057516722
23andMe	rs1057516722
SNPshot	rs1057516722
SNPdbe	rs1057516722
MSV3d	rs1057516722
GWAS Ctlg	rs1057516722

Max Magnitude

0

ClinVar
Risk	rs1057516722(A;A)
Alt	rs1057516722(A;A)
Reference	Rs1057516722(G;G)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6411996G>A
CLNSRC
CLNACC	RCV000409195.1,