rs370129081

Orientation

plus

Stabilized

plus

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

Make rs370129081(A;A)

Make rs370129081(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

6394516

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs370129081
dbSNP (classic)	rs370129081
ClinGen	rs370129081
ebi	rs370129081
HLI	rs370129081
Exac	rs370129081
Gnomad	rs370129081
Varsome	rs370129081
LitVar	rs370129081
Map	rs370129081
PheGenI	rs370129081
Biobank	rs370129081
1000 genomes	rs370129081
hgdp	rs370129081
ensembl	rs370129081
geneview	rs370129081
scholar	rs370129081
google	rs370129081
pharmgkb	rs370129081
gwascentral	rs370129081
openSNP	rs370129081
23andMe	rs370129081
SNPshot	rs370129081
SNPdbe	rs370129081
MSV3d	rs370129081
GWAS Ctlg	rs370129081

Max Magnitude

0

ClinVar
Risk	rs370129081(A;A)
Alt	rs370129081(A;A)
Reference	Rs370129081(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.6415746G>A
CLNSRC
CLNACC	RCV000169329.1,