rs756762196, WWOX

N. diseases: 4
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
30 0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
7 0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05 0.700 0
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
3 0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
9 0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05 0.700 0