rs137852822

Orientation

minus

Stabilized

minus

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

Make rs137852822(G;T)

Make rs137852822(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

96412452

Gene	LOC101929710, PCSK1

is a	snp
is	mentioned by
dbSNP	rs137852822
dbSNP (classic)	rs137852822
ClinGen	rs137852822
ebi	rs137852822
HLI	rs137852822
Exac	rs137852822
Gnomad	rs137852822
Varsome	rs137852822
LitVar	rs137852822
Map	rs137852822
PheGenI	rs137852822
Biobank	rs137852822
1000 genomes	rs137852822
hgdp	rs137852822
ensembl	rs137852822
geneview	rs137852822
scholar	rs137852822
google	rs137852822
pharmgkb	rs137852822
gwascentral	rs137852822
openSNP	rs137852822
23andMe	rs137852822
SNPshot	rs137852822
SNPdbe	rs137852822
MSV3d	rs137852822
GWAS Ctlg	rs137852822

Max Magnitude

0

OMIM	162150
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852822(T;T)
Alt	rs137852822(T;T)
Reference	Rs137852822(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.95748156C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015083.25,