ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
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: rs121912706
rs121912706
0.851 0.200 4 113373306 missense variant C/T snv 1.0E-03 9.2E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy
0.700 1.000 1 2016 2016