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: C0234518
Disease: Slurred speech
Slurred speech 		0.700 1.000 1 2016 2016
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 1.000 1 2010 2010
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 1.000 1 2016 2016
dbSNP: rs1208636573
rs1208636573
MSTO1 ; LOC105371452
0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 0
dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 0
dbSNP: rs622288
rs622288
MSTO1 ; LOC105371452
0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 0
dbSNP: rs730882209
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.700 0