Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777127
rs587777127
MAF ; WWOX
1.000 16 79211665 stop gained G/C;T snv 4.0E-06; 4.0E-06
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.800 1.000 0 2014 2014
dbSNP: rs587777128
rs587777128
WWOX
1.000 16 78108454 missense variant C/A snv
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.800 1.000 0 2014 2014
dbSNP: rs730880292
rs730880292
WWOX
1.000 16 78108455 missense variant C/G snv
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.800 0
dbSNP: rs587777248
rs587777248
WWOX
0.882 0.040 16 78108475 stop gained C/A;T snv 1.6E-05; 8.0E-06
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.700 1.000 1 2014 2014
dbSNP: rs587777248
rs587777248
WWOX
0.882 0.040 16 78108475 stop gained C/A;T snv 1.6E-05; 8.0E-06
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 1.000 1 2014 2014
dbSNP: rs751181600
rs751181600
WWOX
1.000 16 78164284 stop gained G/T snv 4.0E-06
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.700 1.000 1 2015 2015
dbSNP: rs1057518795
rs1057518795
WWOX
1.000 0.040 16 78432614 frameshift variant G/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1060502727
rs1060502727
WWOX
0.925 0.040 16 78115155 splice donor variant G/C;T snv 4.0E-06
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 0
dbSNP: rs1060502727
rs1060502727
WWOX
0.925 0.040 16 78115155 splice donor variant G/C;T snv 4.0E-06
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.700 0
dbSNP: rs1164465811
rs1164465811
WWOX
1.000 16 78425056 splice donor variant G/A;C;T snv 4.0E-06
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs1164465811
rs1164465811
WWOX
1.000 16 78425056 splice donor variant G/A;C;T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs119487098
rs119487098
WWOX
1.000 16 78432568 missense variant T/C snv
CUI: C4016881
Disease: ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC 		0.700 0
dbSNP: rs1567542020
rs1567542020
WWOX
0.925 0.040 16 78386926 stop gained G/T snv
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 0
dbSNP: rs1567542020
rs1567542020
WWOX
0.925 0.040 16 78386926 stop gained G/T snv
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.700 0
dbSNP: rs201008667
rs201008667
WWOX
0.925 0.040 16 78109819 stop gained C/G;T snv 3.2E-05; 3.6E-05
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.700 0
dbSNP: rs201008667
rs201008667
WWOX
0.925 0.040 16 78109819 stop gained C/G;T snv 3.2E-05; 3.6E-05
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 0
dbSNP: rs587777248
rs587777248
WWOX
0.882 0.040 16 78108475 stop gained C/A;T snv 1.6E-05; 8.0E-06
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs730880290
rs730880290
WWOX
1.000 16 78432701 stop gained G/A snv 4.0E-06
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs730880291
rs730880291
WWOX
1.000 16 78099823 frameshift variant GACG/- delins
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs730882215
rs730882215
WWOX
0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs730882215
rs730882215
WWOX
0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs730882215
rs730882215
WWOX
0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882215
rs730882215
WWOX
0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.700 0
dbSNP: rs756762196
rs756762196
WWOX
0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 0
dbSNP: rs756762196
rs756762196
WWOX
0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.700 0