Disease: Kosaki overgrowth 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: rs863224946
rs863224946 		0.925 0.040 5 150125501 missense variant G/C snv
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		0.830 1.000 3 2017 2019
dbSNP: rs1060499542
rs1060499542 		0.827 0.120 5 150125556 missense variant A/G snv
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		0.010 1.000 1 2019 2019