Disease: LYMPHATIC MALFORMATION 6 ×
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: rs201226914
rs201226914 		1.000 16 88732511 missense variant G/T snv 1.0E-03 1.1E-03
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 1.000 1 2015 2015
dbSNP: rs577860843
rs577860843 		1.000 16 88715799 missense variant A/G snv 9.0E-05 7.0E-06
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 1.000 1 2015 2015
dbSNP: rs1166021430
rs1166021430 		0.925 0.200 16 88727652 stop gained C/T snv 1.8E-05 2.8E-05
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 0
dbSNP: rs1567659736
rs1567659736 		0.925 0.200 16 88719917 missense variant T/G snv
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 0
dbSNP: rs869025601
rs869025601 		1.000 16 88715960 missense variant G/A;C snv 6.5E-06; 1.3E-05
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 0