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: rs36027220
rs36027220
1.000 13 37009283 missense variant G/C snv 3.9E-03 4.0E-03
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
0.800 1.000 1 2014 2014
dbSNP: rs1211337
rs1211337
13 37043162 intron variant G/A snv 7.9E-02
CUI: C2697758
Disease: Interleukin 10 Measurement
Interleukin 10 Measurement
0.700 1.000 1 2012 2012
dbSNP: rs1566328963
rs1566328963
1.000 0.120 13 37047903 stop gained T/A snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 0