FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL ×
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: rs587777716
rs587777716 		1.000 6 109791543 missense variant A/T snv
CUI: C4013648
Disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL 		0.800 1.000 1 2014 2014
dbSNP: rs776005417
rs776005417 		0.851 0.240 6 109738415 stop gained G/A snv 3.2E-05 2.2E-04
CUI: C4013648
Disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL 		0.700 0