rs121918156

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

127427219

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918156
dbSNP (classic)	rs121918156
ClinGen	rs121918156
ebi	rs121918156
HLI	rs121918156
Exac	rs121918156
Gnomad	rs121918156
Varsome	rs121918156
LitVar	rs121918156
Map	rs121918156
PheGenI	rs121918156
Biobank	rs121918156
1000 genomes	rs121918156
hgdp	rs121918156
ensembl	rs121918156
geneview	rs121918156
scholar	rs121918156
google	rs121918156
pharmgkb	rs121918156
gwascentral	rs121918156
openSNP	rs121918156
23andMe	rs121918156
SNPshot	rs121918156
SNPdbe	rs121918156
MSV3d	rs121918156
GWAS Ctlg	rs121918156

Max Magnitude

9

aka c.793C>T (p.Leu265Phe)

23andMe name: i5003618

OMIM	612283
Desc
Variant	0020
Related	also

ClinVar
Risk	Rs121918156(T;T)
Alt	Rs121918156(T;T)
Reference	Rs121918156(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.128184795C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000710.3,