Gene: GRK6 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
0.830 GeneticVariation BEFREE Consistent with this, mutant fXII (fXII-Thr309Lys) from patients with hereditary angioedema type III (HAEIII) is protected from CpaA inactivation. 30563903

2018
dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
0.830 GeneticVariation BEFREE Intravital laser-scanning microscopy revealed that, compared with control animals, both F12-/- mice reconstituted with recombinant mutant forms of FXII and humanized HAEIII mouse models with inducible liver-specific expression of Thr309Lys-mutated FXII exhibited increased contact-driven microvascular leakage. 26193639

2015
dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
0.830 GeneticVariation BEFREE Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III. 19178407

2009
dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
0.830 GeneticVariation UNIPROT

dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
C 0.830 CausalMutation CLINVAR

dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
T 0.830 CausalMutation CLINVAR

dbSNP: rs1554097246
rs1554097246
F12 ; GRK6 ; SLC34A1
C 0.700 CausalMutation CLINVAR

dbSNP: rs774034606
rs774034606
F12 ; GRK6 ; SLC34A1
CGGAGGCGCCGCCTGGGTT 0.700 CausalMutation CLINVAR