POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Global developmental delay ×
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: rs113994094
rs113994094 		0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs113994096
rs113994096 		0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2010 2010
dbSNP: rs113994098
rs113994098 		0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2010 2010
dbSNP: rs267606959
rs267606959 		0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2010 2010