rs137852823

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CAG;CAG)	0	common in clinvar
(GCA;GCA)	0	common/normal

Make rs137852823(-;-)

Make rs137852823(-;GCA)

Reference

GRCh38 38.1/141

Chromosome

5

Position

96416103

Gene	LOC101929710, PCSK1

is a	snp
is	mentioned by
dbSNP	rs137852823
dbSNP (classic)	rs137852823
ClinGen	rs137852823
ebi	rs137852823
HLI	rs137852823
Exac	rs137852823
Gnomad	rs137852823
Varsome	rs137852823
LitVar	rs137852823
Map	rs137852823
PheGenI	rs137852823
Biobank	rs137852823
1000 genomes	rs137852823
hgdp	rs137852823
ensembl	rs137852823
geneview	rs137852823
scholar	rs137852823
google	rs137852823
pharmgkb	rs137852823
gwascentral	rs137852823
openSNP	rs137852823
23andMe	rs137852823
SNPshot	rs137852823
SNPdbe	rs137852823
MSV3d	rs137852823
GWAS Ctlg	rs137852823

Max Magnitude

0

OMIM	162150
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852823(-;-)
Alt	rs137852823(-;-)
Reference	Rs137852823(CAG;CAG)
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.95751807_95751809delTGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015084.23,