rs1057517092

Orientation

plus

Stabilized

plus

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

Make rs1057517092(-;-)

Make rs1057517092(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6391646

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057517092
dbSNP (classic)	rs1057517092
ClinGen	rs1057517092
ebi	rs1057517092
HLI	rs1057517092
Exac	rs1057517092
Gnomad	rs1057517092
Varsome	rs1057517092
LitVar	rs1057517092
Map	rs1057517092
PheGenI	rs1057517092
Biobank	rs1057517092
1000 genomes	rs1057517092
hgdp	rs1057517092
ensembl	rs1057517092
geneview	rs1057517092
scholar	rs1057517092
google	rs1057517092
pharmgkb	rs1057517092
gwascentral	rs1057517092
openSNP	rs1057517092
23andMe	rs1057517092
SNPshot	rs1057517092
SNPdbe	rs1057517092
MSV3d	rs1057517092
GWAS Ctlg	rs1057517092

Max Magnitude

0

ClinVar
Risk	rs1057517092(-;-)
Alt	rs1057517092(-;-)
Reference	Rs1057517092(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.6412876delC
CLNSRC
CLNACC	RCV000411552.1,