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.
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
6 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 1.000 1 2010 2010
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 0
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
3 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
94 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 0