ASXL2, ASXL transcriptional regulator 2, 55252

N. diseases: 89; N. variants: 8
Disease: SHASHI-PENA 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: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041066
rs886041066 		1.000 2 25744255 frameshift variant -/C delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041067
rs886041067 		1.000 2 25750328 frameshift variant GTTG/- delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041068
rs886041068 		1.000 2 25743865 frameshift variant G/- delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041069
rs886041069 		1.000 2 25743363 frameshift variant TCCC/- delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041070
rs886041070 		1.000 2 25750268 stop gained C/A snv
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0