rs121918103

Orientation

minus

Stabilized

minus

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

Make rs121918103(C;T)

Make rs121918103(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

71828084

Gene

PSAP

is a	snp
is	mentioned by
dbSNP	rs121918103
dbSNP (classic)	rs121918103
ClinGen	rs121918103
ebi	rs121918103
HLI	rs121918103
Exac	rs121918103
Gnomad	rs121918103
Varsome	rs121918103
LitVar	rs121918103
Map	rs121918103
PheGenI	rs121918103
Biobank	rs121918103
1000 genomes	rs121918103
hgdp	rs121918103
ensembl	rs121918103
geneview	rs121918103
scholar	rs121918103
google	rs121918103
pharmgkb	rs121918103
gwascentral	rs121918103
openSNP	rs121918103
23andMe	rs121918103
SNPshot	rs121918103
SNPdbe	rs121918103
MSV3d	rs121918103
GWAS Ctlg	rs121918103

Max Magnitude

0

OMIM	176801
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918103(T;T)
Alt	rs121918103(T;T)
Reference	Rs121918103(C;C)
Significance	Pathogenic
Disease	Sphingolipid activator protein 1 deficiency
Variation	info
Gene	PSAP
CLNDBN	Sphingolipid activator protein 1 deficiency
Reversed	1
HGVS	NC_000010.10:g.73587841G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014289.26,