rs1057516949

Orientation

plus

Stabilized

plus

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

Make rs1057516949(-;-)

Make rs1057516949(-;GACT)

Make rs1057516949(GACT;GACT)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6390749

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057516949
dbSNP (classic)	rs1057516949
ClinGen	rs1057516949
ebi	rs1057516949
HLI	rs1057516949
Exac	rs1057516949
Gnomad	rs1057516949
Varsome	rs1057516949
LitVar	rs1057516949
Map	rs1057516949
PheGenI	rs1057516949
Biobank	rs1057516949
1000 genomes	rs1057516949
hgdp	rs1057516949
ensembl	rs1057516949
geneview	rs1057516949
scholar	rs1057516949
google	rs1057516949
pharmgkb	rs1057516949
gwascentral	rs1057516949
openSNP	rs1057516949
23andMe	rs1057516949
SNPshot	rs1057516949
SNPdbe	rs1057516949
MSV3d	rs1057516949
GWAS Ctlg	rs1057516949

Max Magnitude

0

ClinVar
Risk	rs1057516949(-;-)
Alt	rs1057516949(-;-)
Reference	Rs1057516949(CTGA;CTGA)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6411979_6411982delGACT
CLNSRC
CLNACC	RCV000411564.1,