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: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		0.800 1.000 1 2010 2017
dbSNP: rs151344512
rs151344512
AFG3L2
1.000 0.080 18 12353028 missense variant T/C;G snv
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		0.800 1.000 0 2010 2017
dbSNP: rs151344513
rs151344513
AFG3L2 ; TUBB6 ; LOC107985154
1.000 0.080 18 12340220 missense variant G/A snv
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		0.800 1.000 0 2010 2017
dbSNP: rs151344514
rs151344514
AFG3L2 ; TUBB6 ; LOC107985154
1.000 0.080 18 12337520 missense variant T/A;C snv 4.0E-06
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		0.800 1.000 0 2010 2017
dbSNP: rs151344515
rs151344515
AFG3L2 ; TUBB6 ; LOC107985154
1.000 0.080 18 12337519 missense variant A/C;G snv
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		0.800 1.000 0 2010 2017
dbSNP: rs151344520
rs151344520
AFG3L2 ; TUBB6 ; LOC107985154
1.000 0.080 18 12337445 missense variant C/T snv
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		0.800 1.000 0 2010 2017
dbSNP: rs151344521
rs151344521
AFG3L2 ; TUBB6 ; LOC107985154
1.000 0.080 18 12337435 missense variant G/T snv
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		0.800 1.000 0 2010 2017
dbSNP: rs151344523
rs151344523
AFG3L2 ; TUBB6 ; LOC107985154
1.000 0.080 18 12337411 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		0.800 1.000 0 2010 2017
dbSNP: rs387906889
rs387906889
AFG3L2 ; TUBB6 ; LOC107985154
1.000 18 12340334 missense variant T/A;C snv 8.0E-06
CUI: C3280977
Disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE 		0.800 1.000 0 2011 2011
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0015672
Disease: Fatigue
Fatigue 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0043352
Disease: Xerostomia
Xerostomia 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0042571
Disease: Vertigo
Vertigo 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.700 1.000 1 2010 2010
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
0.742 0.320 18 12337505 missense variant C/T snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 1.000 1 2010 2010