Source: CLINVAR

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: rs121965064
rs121965064
F11
0.925 0.080 4 186280258 missense variant T/C snv 1.1E-03 6.4E-04
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.810 1.000 8 1989 2019
dbSNP: rs281875275
rs281875275
F11 ; F11-AS1
1.000 0.080 4 186287800 missense variant G/A snv 1.4E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 7 1989 2019
dbSNP: rs1554083754
rs1554083754
F11 ; F11-AS1
1.000 0.080 4 186285811 missense variant C/T snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 5 1989 2015
dbSNP: rs768474112
rs768474112
F11
1.000 0.080 4 186273177 splice donor variant G/A snv 2.0E-05 2.1E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 5 2006 2011
dbSNP: rs121965071
rs121965071
F11
1.000 0.080 4 186284209 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 4 1989 2015
dbSNP: rs139695003
rs139695003
F11 ; F11-AS1
1.000 0.080 4 186287720 missense variant C/A;T snv 4.0E-06; 8.7E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 4 1989 2019
dbSNP: rs121965069
rs121965069
F11
1.000 0.080 4 186271719 missense variant T/C snv 1.2E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 3 1989 2015
dbSNP: rs121965070
rs121965070
F11
1.000 0.080 4 186280065 missense variant A/T snv 5.0E-04 5.4E-04
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 3 1989 2015
dbSNP: rs281875245
rs281875245
F11
1.000 0.080 4 186276299 missense variant G/A;T snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 1 1989 2019
dbSNP: rs281875257
rs281875257
F11
1.000 0.080 4 186280300 missense variant G/A snv 2.0E-05 5.6E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 1 1989 2019
dbSNP: rs281875272
rs281875272
F11
1.000 0.080 4 186273154 missense variant A/G snv 1.2E-05 1.4E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 1 1989 2019
dbSNP: rs28934608
rs28934608
F11
0.925 0.160 4 186280333 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 1 1989 2019
dbSNP: rs28934609
rs28934609
F11 ; F11-AS1
1.000 0.080 4 186288518 missense variant C/A;T snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 1 1989 2019
dbSNP: rs121965065
rs121965065
F11 ; F11-AS1
1.000 0.080 4 186285711 missense variant T/G snv 4.0E-06 1.4E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 0 1989 2015
dbSNP: rs121965067
rs121965067
F11
1.000 0.080 4 186284167 missense variant C/A snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 0 1989 2015
dbSNP: rs121965068
rs121965068
F11
1.000 0.080 4 186284245 missense variant C/T snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 0 1989 2015
dbSNP: rs121965072
rs121965072
F11 ; F11-AS1
1.000 0.080 4 186288496 missense variant G/C snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 0 1989 2015
dbSNP: rs281875250
rs281875250
F11 ; F11-AS1
1.000 0.080 4 186288460 stop gained C/A;T snv 4.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 0 1989 2015
dbSNP: rs281875251
rs281875251
F11 ; F11-AS1
1.000 0.080 4 186288525 stop gained G/A;T snv 4.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.800 1.000 0 1989 2015
dbSNP: rs145906668
rs145906668
F11 ; F11-AS1
0.925 0.080 4 186288514 missense variant C/G;T snv 4.0E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.710 1.000 5 2004 2019
dbSNP: rs753909969
rs753909969
F11
0.925 0.080 4 186284244 missense variant G/A snv 7.2E-05 4.2E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.710 1.000 1 2008 2019
dbSNP: rs121965063
rs121965063
F11
1.000 0.080 4 186274193 stop gained G/T snv 9.3E-04 6.4E-04
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.700 1.000 7 1989 2019
dbSNP: rs542967227
rs542967227
F11 ; F11-AS1
1.000 0.080 4 186285765 missense variant G/A snv 1.0E-04 2.1E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.700 1.000 6 2003 2019
dbSNP: rs779802284
rs779802284
F11
1.000 0.080 4 186284203 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.700 1.000 6 2005 2014
dbSNP: rs1459304265
rs1459304265
F11
1.000 0.080 4 186276276 inframe deletion TCGACA/- delins
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.700 1.000 4 2004 2013