rs121918159

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	5	Partial protein-C deficiency; higher risk for blood clotting related issues
(C;C)	9	Complete protein-C deficiency; severe thrombophilia

Reference

GRCh38 38.1/141

Chromosome

2

Position

127423319

Gene	MIR4783, PROC

is a	snp
is	mentioned by
dbSNP	rs121918159
dbSNP (classic)	rs121918159
ClinGen	rs121918159
ebi	rs121918159
HLI	rs121918159
Exac	rs121918159
Gnomad	rs121918159
Varsome	rs121918159
LitVar	rs121918159
Map	rs121918159
PheGenI	rs121918159
Biobank	rs121918159
1000 genomes	rs121918159
hgdp	rs121918159
ensembl	rs121918159
geneview	rs121918159
scholar	rs121918159
google	rs121918159
pharmgkb	rs121918159
gwascentral	rs121918159
openSNP	rs121918159
23andMe	rs121918159
SNPshot	rs121918159
SNPdbe	rs121918159
MSV3d	rs121918159
GWAS Ctlg	rs121918159

Max Magnitude

9

aka c.446A>C (p.His149Pro)

23andMe name: i5003615

OMIM	612283
Desc
Variant	0024
Related	also

ClinVar
Risk	Rs121918159(C;C)
Alt	Rs121918159(C;C)
Reference	Rs121918159(A;A)
Significance	Pathogenic
Disease	Thrombophilia
Variation	info
Gene	PROC MIR4783
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.128180895A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000714.4,