Source: CLINVAR

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: rs121908120
rs121908120
0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.810 1.000 0 2018 2019
dbSNP: rs121908121
rs121908121
0.925 0.120 2 218889990 missense variant G/A snv 7.6E-05 9.1E-05
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia
0.800 1.000 1 2007 2017
dbSNP: rs121908121
rs121908121
0.925 0.120 2 218889990 missense variant G/A snv 7.6E-05 9.1E-05
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
0.800 1.000 1 2009 2017
dbSNP: rs121908120
rs121908120
0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
0.800 1.000 0 2011 2017
dbSNP: rs121908120
rs121908120
0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia
0.800 1.000 0 2007 2017
dbSNP: rs141074983
rs141074983
1.000 0.080 2 218882384 missense variant C/A;T snv 4.0E-06; 8.6E-04
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
0.800 0
dbSNP: rs147680216
rs147680216
0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
0.800 0
dbSNP: rs121908119
rs121908119
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia
0.700 1.000 7 2009 2015
dbSNP: rs121908119
rs121908119
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
0.700 1.000 7 2009 2015
dbSNP: rs121908119
rs121908119
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 2007 2017
dbSNP: rs121908119
rs121908119
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 6 2007 2017
dbSNP: rs121908119
rs121908119
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
0.700 1.000 6 2009 2015
dbSNP: rs372993798
rs372993798
0.882 0.200 2 218889998 missense variant G/A;T snv 3.6E-05; 4.0E-06
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
0.700 1.000 4 2009 2014
dbSNP: rs372993798
rs372993798
0.882 0.200 2 218889998 missense variant G/A;T snv 3.6E-05; 4.0E-06
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia
0.700 1.000 4 2009 2014
dbSNP: rs762739726
rs762739726
0.882 0.200 2 218889989 stop gained C/T snv 1.6E-05
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia
0.700 1.000 2 2010 2013
dbSNP: rs762739726
rs762739726
0.882 0.200 2 218889989 stop gained C/T snv 1.6E-05
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
0.700 1.000 2 2010 2013
dbSNP: rs886039453
rs886039453
0.925 0.120 2 218890349 stop gained C/T snv 8.4E-06 2.1E-05
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia
0.700 1.000 2 2011 2017
dbSNP: rs886039453
rs886039453
0.925 0.120 2 218890349 stop gained C/T snv 8.4E-06 2.1E-05
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
0.700 1.000 2 2011 2017
dbSNP: rs121908120
rs121908120
0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth
0.700 1.000 1 2015 2015
dbSNP: rs34972707
rs34972707
2 218893104 missense variant A/C snv 8.7E-04 6.1E-04
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth
0.700 1.000 1 2015 2015
dbSNP: rs1011303295
rs1011303295
1.000 0.120 2 218892843 missense variant T/A;C snv 7.0E-06
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia
0.700 0
dbSNP: rs1060499588
rs1060499588
0.882 0.200 2 218890223 stop gained C/T snv
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
0.700 0
dbSNP: rs1060499588
rs1060499588
0.882 0.200 2 218890223 stop gained C/T snv
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
0.700 0
dbSNP: rs1060499588
rs1060499588
0.882 0.200 2 218890223 stop gained C/T snv
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia
0.700 0
dbSNP: rs121908118
rs121908118
1.000 0.120 2 218890304 stop gained G/A;T snv 7.5E-05
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia
0.700 0