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: rs139455627
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0457756
Disease: Tooth absent
Tooth absent 		0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0457756
Disease: Tooth absent
Tooth absent 		0.700 1.000 1 2016 2016
dbSNP: rs113993993
rs113993993
SBDS
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0457756
Disease: Tooth absent
Tooth absent 		0.700 0
dbSNP: rs120074160
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0457756
Disease: Tooth absent
Tooth absent 		0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv
CUI: C0457756
Disease: Tooth absent
Tooth absent 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0457756
Disease: Tooth absent
Tooth absent 		0.700 0