Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		0.830 1.000 0 2009 2018
dbSNP: rs118204454
rs118204454
F12 ; GRK6 ; SLC34A1
1.000 0.080 5 177403994 missense variant C/G;T snv 4.4E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.700 0
dbSNP: rs118204455
rs118204455
F12 ; GRK6 ; SLC34A1
1.000 0.080 5 177406019 missense variant T/C snv 7.0E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.700 0
dbSNP: rs141014084
rs141014084
GRK6
1.000 0.080 5 177430911 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 0
dbSNP: rs865853663
rs865853663
F12 ; GRK6 ; SLC34A1
1.000 0.080 5 177403878 missense variant C/T snv
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.700 0
dbSNP: rs932430490
rs932430490
F12 ; GRK6 ; SLC34A1
1.000 0.080 5 177403859 missense variant C/T snv
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.700 0