rs1057517345

Orientation

plus

Stabilized

plus

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

Make rs1057517345(CC;G)

Make rs1057517345(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6392059

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057517345
dbSNP (classic)	rs1057517345
ClinGen	rs1057517345
ebi	rs1057517345
HLI	rs1057517345
Exac	rs1057517345
Gnomad	rs1057517345
Varsome	rs1057517345
LitVar	rs1057517345
Map	rs1057517345
PheGenI	rs1057517345
Biobank	rs1057517345
1000 genomes	rs1057517345
hgdp	rs1057517345
ensembl	rs1057517345
geneview	rs1057517345
scholar	rs1057517345
google	rs1057517345
pharmgkb	rs1057517345
gwascentral	rs1057517345
openSNP	rs1057517345
23andMe	rs1057517345
SNPshot	rs1057517345
SNPdbe	rs1057517345
MSV3d	rs1057517345
GWAS Ctlg	rs1057517345

Max Magnitude

0

ClinVar
Risk	rs1057517345(G;G)
Alt	rs1057517345(G;G)
Reference	Rs1057517345(CC;CC)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6413289_6413290delCCinsG
CLNSRC
CLNACC	RCV000409737.1,