Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY ×
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: rs201278558
rs201278558 		0.925 0.080 2 65010729 missense variant G/A snv 2.3E-04 1.2E-04
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.800 1.000 3 2015 2015
dbSNP: rs761533681
rs761533681 		0.925 2 65020916 missense variant C/T snv 1.2E-04 1.4E-05
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.800 1.000 3 2015 2015
dbSNP: rs1057517664
rs1057517664 		1.000 2 65016583 frameshift variant TT/- del 4.0E-06
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 0
dbSNP: rs1553375174
rs1553375174 		1.000 2 65017690 splice acceptor variant ATCATAGTTTACCATTTACTTTTGGGAGGGGAACACTCAAGAGAGGAGATGCACATGTAGAGAAACTAGTTGTTTGTTCTCTCGGGAACGTTTTGCACCGGGAGGCAATGTGCAGTTCTTAAGAAACTTGGAACACGTGAATCCAAGTAAATGACAGAATAGGTAAATGAAGGCAGTCATATTTTAAGTATCTTGGGAGTTGCCAAAGCCTCATGTTGTGACAGAAGTTTTAAAGTGATTCTGTTTTTTCCCTTATTTCAAGAGAAGAAAGCCAGAAACGAAGATGGTGCTAATTGCTCTGTTCTGGGGTCTGAGACAAGACACATGTTAGCCTGCCTCGGACTGTTGTCATGTCTGGCGGTTTGTTTTTCCCATTTCTAGCTCAGCGACCCTTCCCTCTATGATGAAGTGCATTGAAGAGAACAATGGTGTGGACAAGAGGATCAGCAGGTTTATTCTCCCCATCGGGGCCACCGTGAACATGGACGGAGCAGCCATCTTCCAGTGTGTGGCCGCGGTGTTCATTGCGCAACTCAACAACGTAGAGCTCAACGCAGGACAGATTTTCACCATTCTGTAAGTTCCTCATTCTTTCCCTGGCTCAAAACTGAAGGCTTTTCTTGTGATTTCCTTTGAAAAACCAATCTCACCACAACTTGGTGTCTCGCTCATAAAATGAGGACAGTGGGGATTCATTACTTGAAGAGCGTGTGTTGACTCTCAAGGGCGTAGCCAGCAGAGCCTATGGTGGGGCGGTTTTTAGTTTCCAGCCACATTGCAGCT/- del
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 0
dbSNP: rs1558529034
rs1558529034 		1.000 2 65018680 splice donor variant G/A;T snv
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 0