Disease: EVEN-PLUS SYNDROME ×
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: rs772570880
rs772570880 		1.000 5 138566715 frameshift variant CT/- del 6.3E-05
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.700 0
dbSNP: rs751478142
rs751478142 		1.000 5 138570994 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.810 1.000 1 2019 2019
dbSNP: rs765368797
rs765368797 		1.000 5 138570987 missense variant T/C snv 4.0E-06
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.810 1.000 2 2015 2019