|
992 |
rs510317
|
Point |
Promoter |
Flanking (5') |
c.-402G>A |
|
1
|
0.2326 |
NA |
Comparison of PrASE and Pyrosequencing for SNP Genotyping |
The rare c.-402A allele was associated with significantly higher FVII:C and FVII:Ag levels than subjects homozygous for the common c.-402G allele (p<0.05) (16038716)" |
The rare c.-402A allele confers increased transcriptional activity and is associated with increased plasma FVII:C level (10233895). The allelic variant c.-402A showed a statistically significant increase in expression levels (increase of 50.99%) (17292373)" |
|
991 |
rs510335
|
Point |
Promoter |
Flanking (5') |
c.-401G>T |
|
1
|
0.2041 |
NA |
In complete allelic association with c.-325_-324ins10 and c.-122C |
No variant-specific in vivo studies as the c.-401T variant is in complete association with c.-325_-324ins10 (10233895)" |
The allelic variant c.-401T showed an increase of 39.04% when analyzed alone. By contrast, this effect disappeared when combined with c.-325_-324ins10 (17292373)" |
|
996 |
rs5742910
|
Insertion |
Promoter |
Flanking (5') |
c.-325_-324insCCTATATCCT |
|
81
|
0.23 |
WT=A1: Var = A2 |
In linkage disequilibrium with p.(Arg413Gln) |
Genetic variation associated with the c.-325_-324ins10 polymorphism contributes to 26% and 23% of the variance of FVII:C and FVII:Ag respectively (8548429)" |
Decanucleotide insert at c.-325 is shown to reduce promoter activity by 33% compared with wild type (reporter gene constructs in HepG2) (8576177). This was confirmed in both individual and combined allelic variants experiments) (17292373) |
|
995 |
rs561241
|
Point |
Promoter |
Flanking (5') |
c.-122T>C |
|
6
|
0.1436 |
WT=P1: Var=P2 |
In complete allelic association with c.-325_-324ins10 and c.-401T (possible exceptions) |
No in vivo studies as the c.-122C variant is in complete association with c.-325_-324ins10 |
The allelic variant c.-122C caused a statistically significant reduction in expression level at 39.90% (reporter plasmids containing individual allelic variant) (17292373)" |
|
993 |
rs6039
|
Point |
Intronic |
Intron (1) |
c.64+9G>A |
|
7
|
0.1403992 |
G73A (DNA numbering): WT=G1: Var=G2 |
In linkage disequilibrium with p.(Arg413Gln) |
Due to the linkage disequilibrium, they could not establish whether the c.64+9G>A allele variant contributed per se to lowering FVII:C levels study (10691850)" |
There is no in vitro study
|
|
999 |
rs6042
|
Point |
Silent |
Exon (6) |
c.525C>T |
p.(His175=) |
64
|
0.1345885 |
H115=: WT=H1 (or C1): Var=H2 (or C2) |
|
|
|
|
988 |
VNTR[8] |
Indel |
Intronic |
Exon (8) |
c.795_805+26[8] |
|
1
|
|
NA |
VNTR[6] is the Wild Type |
Due to the low frequency of this allele, no large studies were published. Subjects carring an H8 allele showed a high FVIIa level |
A quantitative analysis of transcripts indicated a parallel decrease of the IVS7 repeat number and mRNA relative expression (VNTR[6] being considered as a reference). VNTR[8] showed higher values than VNTR[6] (10828024)" |
|
989 |
VNTR[5] |
Indel |
Intronic |
Exon (8) |
c.795_805+26[5] |
|
0
|
|
NA |
VNTR[6] is the Wild Type |
Due to the low frequency of this allele, no large studies were published. Subjects with the H5 allele (without c.-325ins10 neither p.413Gln) showed lower FVII levels than controls. |
A quantitative analysis of transcripts indicated a parallel decrease of the IVS7 repeat number and mRNA relative expression (VNTR[6] being considered as a reference). VNTR[5] showed lower values than VNTR[6] (10828024)" |
|
990 |
VNTR[7] |
Indel |
Intronic |
Exon (8) |
c.795_805+26[7] |
|
89
|
0.31 |
Var=a (7) or h7 |
VNTR[6] is the Wild Type |
Genetic variation associated with the c.795_805+26[7] polymorphism contributes to 17% and 13% of the variance of FVII:C and FVII:Ag respectively (8548429)" |
A quantitative analysis of transcripts indicated a parallel decrease of the IVS7 repeat number and mRNA relative expression (VNTR[6] being considered as a reference). VNTR[7] showed higher values than VNTR[6] (10828024)" |
|
994 |
rs6041
|
Point |
Intronic |
Intron (8) |
c.806-20G>A |
|
45
|
0.1274271 |
WT=I1: Var=I2 |
Ischemic stroke is associated with the ABO locus: the EuroCLOT study. |
|
|
|
998 |
rs6046
|
Point |
Missense |
Exon (9) |
c.1238G>A |
p.(Arg413Gln (R353Q)) |
116
|
0.1265056 |
R353Q: WT=M1: Var=M2 |
In linkage disequilibrium with the c.-401T/c.-325_-324ins10/c.-122C haplotype |
Genetic variation associated with the p.(Arg413Gln) polymorphism contributes to 30% and 23% of the variance of FVII:C and FVII:Ag respectively (8548429; 9409261)" |
Transient transfection assays with a F7 cDNA containing the base substitution resulting in Gln413 showed a FVII secretion decrease to 74% compared to wild type (9409261)" |
