POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
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: rs1386253973
rs1386253973
2 130102137 synonymous variant G/A snv
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs551990652
rs551990652
1.000 0.040 2 130120359 missense variant C/T snv 3.2E-05 7.1E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2004 2004