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: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
CUI: C0000846
Disease: Agenesis
Agenesis
0.020 1.000 2 2016 2017
dbSNP: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.010 1.000 1 2019 2019
dbSNP: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.010 1.000 1 2017 2017
dbSNP: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
CUI: C0011320
Disease: Dens in Dente
Dens in Dente
0.010 1.000 1 2014 2014
dbSNP: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder)
0.010 1.000 1 2014 2014
dbSNP: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
CUI: C1275074
Disease: Odonto-onycho-dermal dysplasia
Odonto-onycho-dermal dysplasia
0.010 1.000 1 2014 2014
dbSNP: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.010 1.000 1 2017 2017
dbSNP: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
CUI: C4082304
Disease: Oligodontia
Oligodontia
0.010 1.000 1 2017 2017
dbSNP: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
CUI: C4021813
Disease: Oral cleft
Oral cleft
0.010 1.000 1 2019 2019