Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Odontoonychodermal dysplasia
CUI: C0796093
Disease: Odontoonychodermal dysplasia
15 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.700 1.000 7 2009 2015
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
CUI: C1835492
Disease: TOOTH AGENESIS, SELECTIVE, 4 (disorder)
24 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.700 1.000 7 2009 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.700 1.000 6 2007 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.700 1.000 6 2007 2017
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
CUI: C1857069
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
5 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.700 1.000 6 2009 2015
Agenesis
CUI: C0000846
Disease: Agenesis
44 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.010 1.000 1 2018 2018
Developmental absence of tooth
CUI: C0399352
Disease: Developmental absence of tooth
15 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.010 1 2016 2016
Hypodontia
CUI: C0020608
Disease: Hypodontia
48 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.010 1.000 1 2019 2019
Oligodontia
CUI: C4082304
Disease: Oligodontia
34 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.010 1.000 1 2019 2019
Tooth Loss
CUI: C0080233
Disease: Tooth Loss
8 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.010 1 2016 2016