Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140920120
rs140920120
0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal
0.010 1.000 1 2017 2017
dbSNP: rs140920120
rs140920120
0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 1.000 1 2013 2013