rs121918144

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a thrombophilia due to protein C deficiency mutation
(T;T)	9	Complete protein-C deficiency; severe thrombophilia

Reference

GRCh38 38.1/141

Chromosome

2

Position

127428462

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918144
dbSNP (classic)	rs121918144
ClinGen	rs121918144
ebi	rs121918144
HLI	rs121918144
Exac	rs121918144
Gnomad	rs121918144
Varsome	rs121918144
LitVar	rs121918144
Map	rs121918144
PheGenI	rs121918144
Biobank	rs121918144
1000 genomes	rs121918144
hgdp	rs121918144
ensembl	rs121918144
geneview	rs121918144
scholar	rs121918144
google	rs121918144
pharmgkb	rs121918144
gwascentral	rs121918144
openSNP	rs121918144
23andMe	rs121918144
SNPshot	rs121918144
SNPdbe	rs121918144
MSV3d	rs121918144
GWAS Ctlg	rs121918144

Max Magnitude

9

aka c.902C>T (p.Ala301Val)

23andMe name: i6017036

OMIM	612283
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs121918144(T;T)
Alt	Rs121918144(T;T)
Reference	Rs121918144(C;C)
Significance	Pathogenic
Disease	Thrombophilia
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.128186038C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000695.4,