AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 ×
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: rs587777392
rs587777392 		1.000 1 109630697 missense variant G/C snv
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.800 1.000 1 2013 2013
dbSNP: rs587777394
rs587777394 		1.000 1 109630740 missense variant G/T snv
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.800 1.000 1 2013 2013
dbSNP: rs587777395
rs587777395 		1.000 1 109629487 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.800 1.000 1 2013 2013
dbSNP: rs1553230375
rs1553230375 		1.000 1 109630690 stop lost T/G snv
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.700 0
dbSNP: rs587777391
rs587777391 		1.000 1 109628725 frameshift variant G/- delins
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.700 0
dbSNP: rs587777393
rs587777393 		1.000 1 109627453 stop gained C/A snv 4.0E-06
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.700 0
dbSNP: rs875989844
rs875989844 		1.000 1 109630343 stop gained C/G snv
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.700 0