FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
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: rs1057518816
rs1057518816
1.000 0.040 11 72195389 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0