rs120074127

Orientation

plus

Stabilized

plus

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

Make rs120074127(C;T)

Make rs120074127(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6393680

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074127
dbSNP (classic)	rs120074127
ClinGen	rs120074127
ebi	rs120074127
HLI	rs120074127
Exac	rs120074127
Gnomad	rs120074127
Varsome	rs120074127
LitVar	rs120074127
Map	rs120074127
PheGenI	rs120074127
Biobank	rs120074127
1000 genomes	rs120074127
hgdp	rs120074127
ensembl	rs120074127
geneview	rs120074127
scholar	rs120074127
google	rs120074127
pharmgkb	rs120074127
gwascentral	rs120074127
openSNP	rs120074127
23andMe	rs120074127
SNPshot	rs120074127
SNPdbe	rs120074127
MSV3d	rs120074127
GWAS Ctlg	rs120074127

Max Magnitude

0

OMIM	607608
Desc
Variant	0014
Related	also

ClinVar
Risk	rs120074127(G;G) rs120074127(T;T)
Alt	rs120074127(G;G) rs120074127(T;T)
Reference	Rs120074127(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease Niemann-Pick disease not provided
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B Niemann-Pick disease, type A not provided
Reversed	0
HGVS	NC_000011.9:g.6414910C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003127.2, RCV000193674.1, RCV000372224.1,