Disease: LISSENCEPHALY 8 ×
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: rs1057517696
rs1057517696 		1.000 12 88188871 frameshift variant A/- delins
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0
dbSNP: rs1057517697
rs1057517697 		1.000 12 88195521 stop gained C/T snv
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0
dbSNP: rs1057517698
rs1057517698 		1.000 12 88148318 start lost G/A snv
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0
dbSNP: rs1057519417
rs1057519417 		1.000 12 88194862 frameshift variant -/TT delins
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0
dbSNP: rs754200057
rs754200057 		1.000 12 88153300 missense variant C/G;T snv 4.0E-06
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0