RNF213, ring finger protein 213, 57674

N. diseases: 59; N. variants: 17
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: rs371676448
rs371676448
1.000 0.080 17 80345647 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs748247392
rs748247392
1.000 0.080 17 80346811 missense variant G/A;T snv 1.6E-05
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016