Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909548
rs121909548
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
G 0.800 CausalMutation CLINVAR
dbSNP: rs121909549
rs121909549
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
G 0.800 CausalMutation CLINVAR
dbSNP: rs121909549
rs121909549
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909550
rs121909550
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs121909554
rs121909554
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs121909555
rs121909555
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs121909557
rs121909557
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909564
rs121909564
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs121909566
rs121909566
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
T 0.800 CausalMutation CLINVAR
dbSNP: rs1188571702
rs1188571702
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs1301351856
rs1301351856
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs121909546
rs121909546
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
T 0.800 CausalMutation CLINVAR Pleiotropic effects of antithrombin strand 1C substitution mutations. 1469094 1992
dbSNP: rs121909546
rs121909546
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909548
rs121909548
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909549
rs121909549
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909550
rs121909550
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909554
rs121909554
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909555
rs121909555
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909557
rs121909557
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909564
rs121909564
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909566
rs121909566
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909568
rs121909568
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.700 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
dbSNP: rs121909546
rs121909546
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. 1555650 1992
dbSNP: rs121909548
rs121909548
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. 1555650 1992
dbSNP: rs121909549
rs121909549
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
Antithrombin III Deficiency
0.800 GeneticVariation UNIPROT Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. 1555650 1992