rs120074128

Orientation

plus

Stabilized

plus

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

Make rs120074128(A;A)

Make rs120074128(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6391945

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs120074128
dbSNP (classic)	rs120074128
ClinGen	rs120074128
ebi	rs120074128
HLI	rs120074128
Exac	rs120074128
Gnomad	rs120074128
Varsome	rs120074128
LitVar	rs120074128
Map	rs120074128
PheGenI	rs120074128
Biobank	rs120074128
1000 genomes	rs120074128
hgdp	rs120074128
ensembl	rs120074128
geneview	rs120074128
scholar	rs120074128
google	rs120074128
pharmgkb	rs120074128
gwascentral	rs120074128
openSNP	rs120074128
23andMe	rs120074128
SNPshot	rs120074128
SNPdbe	rs120074128
MSV3d	rs120074128
GWAS Ctlg	rs120074128

Max Magnitude

0

OMIM	607608
Desc
Variant	0015
Related	also

ClinVar
Risk	rs120074128(A;A)
Alt	rs120074128(A;A)
Reference	Rs120074128(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease Niemann-pick disease Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type B Niemann-pick disease, intermediate, protracted neurovisceral Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6413175C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003128.2, RCV000003129.2, RCV000169297.1,