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: rs73212431
rs73212431
3 129176671 intron variant C/G snv 0.17
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs1871922
rs1871922
1.000 0.120 3 129183756 intron variant G/C;T snv
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011