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: rs887829
rs887829
0.763 0.280 2 233759924 intron variant C/T snv 0.36
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs8175347
rs8175347
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019