Source: CURATED

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: rs137853043
rs137853043
TUBA1A
1.000 0.240 12 49185576 missense variant G/A;C snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.800 1.000 4 2007 2015
dbSNP: rs137853044
rs137853044
TUBA1A
1.000 0.240 12 49185161 missense variant C/A;T snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.800 1.000 4 2007 2015
dbSNP: rs587784483
rs587784483
TUBA1A
0.925 0.320 12 49185162 missense variant G/A;T snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.800 1.000 4 2007 2015
dbSNP: rs137853045
rs137853045
TUBA1A
1.000 0.240 12 49185804 missense variant T/G snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.800 1.000 2 2007 2015
dbSNP: rs137853046
rs137853046
TUBA1A
1.000 0.240 12 49185579 missense variant G/T snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.800 1.000 2 2007 2015
dbSNP: rs137853047
rs137853047
TUBA1A
1.000 0.240 12 49185110 missense variant G/A snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.800 1.000 2 2007 2015
dbSNP: rs1057517858
rs1057517858
TUBA1A
0.925 0.240 12 49185714 missense variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 11 2007 2016
dbSNP: rs137853043
rs137853043
TUBA1A
1.000 0.240 12 49185576 missense variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 11 2007 2016
dbSNP: rs137853049
rs137853049
TUBA1A
1.000 0.240 12 49185102 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 11 2007 2016
dbSNP: rs1555162303
rs1555162303
TUBA1A
12 49185311 missense variant T/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 11 2007 2016
dbSNP: rs1555162303
rs1555162303
TUBA1A
12 49185311 missense variant T/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 11 2007 2016
dbSNP: rs1555162323
rs1555162323
TUBA1A
1.000 12 49185407 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2007 2016
dbSNP: rs1555162323
rs1555162323
TUBA1A
1.000 12 49185407 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2007 2016
dbSNP: rs1555162407
rs1555162407
TUBA1A
12 49185942 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2007 2016
dbSNP: rs1555162486
rs1555162486
TUBA1A
12 49186402 missense variant C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 11 2007 2016
dbSNP: rs137853050
rs137853050
TUBA1A
1.000 0.240 12 49185101 missense variant C/T snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.700 1.000 2 2008 2010
dbSNP: rs1555162325
rs1555162325
TUBA1A
0.925 0.240 12 49185446 missense variant G/A snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.700 1.000 1 2018 2018
dbSNP: rs1555162325
rs1555162325
TUBA1A
0.925 0.240 12 49185446 missense variant G/A snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.700 1.000 1 2018 2018
dbSNP: rs1565627727
rs1565627727
TUBA1A
1.000 0.240 12 49186670 missense variant G/A snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.700 1.000 1 2014 2014
dbSNP: rs753719501
rs753719501
TUBA1A
1.000 0.240 12 49185142 stop gained G/A;T snv 1.2E-05
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.700 1.000 1 2016 2016
dbSNP: rs797045005
rs797045005
TUBA1A
0.851 0.320 12 49185140 missense variant A/G snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.700 1.000 1 2008 2008
dbSNP: rs1057517843
rs1057517843
TUBA1A
1.000 0.240 12 49185725 missense variant C/A;T snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.700 0
dbSNP: rs1057517843
rs1057517843
TUBA1A
1.000 0.240 12 49185725 missense variant C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057517858
rs1057517858
TUBA1A
0.925 0.240 12 49185714 missense variant C/A;T snv
CUI: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		0.700 0
dbSNP: rs1057517858
rs1057517858
TUBA1A
0.925 0.240 12 49185714 missense variant C/A;T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0