rs137852821

Orientation

minus

Stabilized

minus

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

Make rs137852821(A;A)

Make rs137852821(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

96399020

Gene	LOC101929710, PCSK1

is a	snp
is	mentioned by
dbSNP	rs137852821
dbSNP (classic)	rs137852821
ClinGen	rs137852821
ebi	rs137852821
HLI	rs137852821
Exac	rs137852821
Gnomad	rs137852821
Varsome	rs137852821
LitVar	rs137852821
Map	rs137852821
PheGenI	rs137852821
Biobank	rs137852821
1000 genomes	rs137852821
hgdp	rs137852821
ensembl	rs137852821
geneview	rs137852821
scholar	rs137852821
google	rs137852821
pharmgkb	rs137852821
gwascentral	rs137852821
openSNP	rs137852821
23andMe	rs137852821
SNPshot	rs137852821
SNPdbe	rs137852821
MSV3d	rs137852821
GWAS Ctlg	rs137852821

Max Magnitude

0

OMIM	162150
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852821(A;A)
Alt	rs137852821(A;A)
Reference	Rs137852821(G;G)
Significance	Pathogenic
Disease	Proprotein convertase 1/3 deficiency
Variation	info
Gene	PCSK1 LOC101929710
CLNDBN	Proprotein convertase 1/3 deficiency
Reversed	1
HGVS	NC_000005.9:g.95734724C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015081.26,