HIVEP2, HIVEP zinc finger 2, 3097

N. diseases: 42; N. variants: 18
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 ×
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: rs1562505675
rs1562505675 		1.000 6 142771246 frameshift variant -/TGACTGTCCATGTGCATGATCTGTGGCTGGGC delins
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs761993070
rs761993070 		1.000 6 142759813 stop gained C/A;G;T snv 2.0E-05
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs869312841
rs869312841 		1.000 6 142771912 stop gained G/A snv
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs869312843
rs869312843 		1.000 6 142771882 stop gained C/A snv
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs869312844
rs869312844 		1.000 6 142761469 frameshift variant -/C delins
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs878853251
rs878853251 		1.000 6 142760551 frameshift variant C/- del
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0
dbSNP: rs878853269
rs878853269 		1.000 6 142771183 stop gained G/A snv
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		0.700 0