F12, coagulation factor XII, 2161

N. diseases: 87; N. variants: 22
Disease: Hereditary Angioedema Type III ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118204456
rs118204456 		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 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.830 1.000 3 2009 2018
dbSNP: rs1554097246
rs1554097246 		1.000 0.120 5 177404172 splice donor variant CTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTC/- delins
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs774034606
rs774034606 		1.000 0.120 5 177404302 inframe insertion -/AGGCGCCGCCTGGGTTGG delins
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0