rs137852824

Orientation

minus

Stabilized

minus

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

Make rs137852824(C;T)

Make rs137852824(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

96410949

Gene	LOC101929710, PCSK1

is a	snp
is	mentioned by
dbSNP	rs137852824
dbSNP (classic)	rs137852824
ClinGen	rs137852824
ebi	rs137852824
HLI	rs137852824
Exac	rs137852824
Gnomad	rs137852824
Varsome	rs137852824
LitVar	rs137852824
Map	rs137852824
PheGenI	rs137852824
Biobank	rs137852824
1000 genomes	rs137852824
hgdp	rs137852824
ensembl	rs137852824
geneview	rs137852824
scholar	rs137852824
google	rs137852824
pharmgkb	rs137852824
gwascentral	rs137852824
openSNP	rs137852824
23andMe	rs137852824
SNPshot	rs137852824
SNPdbe	rs137852824
MSV3d	rs137852824
GWAS Ctlg	rs137852824

Max Magnitude

0

OMIM	162150
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852824(T;T)
Alt	rs137852824(T;T)
Reference	Rs137852824(C;C)
Significance	Pathogenic
Disease	Proprotein convertase 1/3 deficiency
Variation	info
Gene	LOC101929710 PCSK1
CLNDBN	Proprotein convertase 1/3 deficiency
Reversed	1
HGVS	NC_000005.9:g.95746653G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015085.25,