rs121918109

Orientation

minus

Stabilized

minus

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

Make rs121918109(C;T)

Make rs121918109(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

71819527

Gene

PSAP

is a	snp
is	mentioned by
dbSNP	rs121918109
dbSNP (classic)	rs121918109
ClinGen	rs121918109
ebi	rs121918109
HLI	rs121918109
Exac	rs121918109
Gnomad	rs121918109
Varsome	rs121918109
LitVar	rs121918109
Map	rs121918109
PheGenI	rs121918109
Biobank	rs121918109
1000 genomes	rs121918109
hgdp	rs121918109
ensembl	rs121918109
geneview	rs121918109
scholar	rs121918109
google	rs121918109
pharmgkb	rs121918109
gwascentral	rs121918109
openSNP	rs121918109
23andMe	rs121918109
SNPshot	rs121918109
SNPdbe	rs121918109
MSV3d	rs121918109
GWAS Ctlg	rs121918109

Max Magnitude

0

OMIM	176801
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121918109(T;T)
Alt	rs121918109(T;T)
Reference	Rs121918109(C;C)
Significance	Pathogenic
Disease	Gaucher disease
Variation	info
Gene	PSAP
CLNDBN	Gaucher disease, atypical, due to saposin C deficiency
Reversed	1
HGVS	NC_000010.10:g.73579284G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014300.24,