rs281860677

Orientation

plus

Stabilized

plus

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

Make rs281860677(-;TCCCCGCA)

Make rs281860677(TCCCCGCA;TCCCCGCA)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6391914

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs281860677
dbSNP (classic)	rs281860677
ClinGen	rs281860677
ebi	rs281860677
HLI	rs281860677
Exac	rs281860677
Gnomad	rs281860677
Varsome	rs281860677
LitVar	rs281860677
Map	rs281860677
PheGenI	rs281860677
Biobank	rs281860677
1000 genomes	rs281860677
hgdp	rs281860677
ensembl	rs281860677
geneview	rs281860677
scholar	rs281860677
google	rs281860677
pharmgkb	rs281860677
gwascentral	rs281860677
openSNP	rs281860677
23andMe	rs281860677
SNPshot	rs281860677
SNPdbe	rs281860677
MSV3d	rs281860677
GWAS Ctlg	rs281860677

Max Magnitude

0

ClinVar
Risk	rs281860677(CATCCCCG;CATCCCCG)
Alt	rs281860677(CATCCCCG;CATCCCCG)
Reference	Rs281860677(-;-)
Significance	Pathogenic
Disease	not provided Niemann-Pick disease Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	not provided Niemann-Pick disease, type B Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6413137_6413144dupTCCCCGCA
CLNSRC	ClinVar
CLNACC	RCV000079199.3, RCV000175627.1, RCV000411491.1,