ORC4, origin recognition complex subunit 4, 5000

N. diseases: 75; N. variants: 28
Disease: MEIER-GORLIN SYNDROME 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: rs387906847
rs387906847 		1.000 2 147952440 missense variant T/C snv 8.0E-06; 4.0E-06 3.5E-05
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.800 1.000 2 2011 2011
dbSNP: rs1085307083
rs1085307083 		1.000 2 147975958 start lost T/C snv
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.700 1.000 2 2011 2011
dbSNP: rs797044461
rs797044461 		1.000 2 147939224 frameshift variant -/TGTT delins 7.0E-06
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.700 0
dbSNP: rs797045852
rs797045852 		1.000 2 147935595 frameshift variant G/- del
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.700 0