ELN, elastin, 2006

N. diseases: 545; N. variants: 61
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: rs2071307
rs2071307
0.925 0.080 7 74056384 missense variant G/A;C snv 0.32; 4.0E-06
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.030 0.333 3 2013 2018
dbSNP: rs2856728
rs2856728
1.000 0.080 7 74056452 intron variant C/T snv 0.79 0.80
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2013 2018
dbSNP: rs1055137031
rs1055137031
1.000 0.080 7 74056435 missense variant C/T snv
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1064796150
rs1064796150
1.000 0.080 7 74056383 missense variant TG/CA mnv
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs41523046
rs41523046
1.000 0.080 7 74059978 missense variant G/A;T snv 4.7E-04; 4.0E-06 5.5E-04
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2017 2017