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: rs11254
rs11254
0.925 0.120 21 38824464 3 prime UTR variant C/T snv 0.34
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2070531
rs2070531
0.925 0.120 21 38822292 intron variant C/T snv 0.35
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs461155
rs461155
0.925 0.120 21 38819714 synonymous variant A/G;T snv 0.72; 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs711
rs711
0.851 0.200 21 38823135 3 prime UTR variant A/C;G snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013