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: rs1064797245
rs1064797245
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1988 2017
dbSNP: rs1555859157
rs1555859157
1.000 19 41968833 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593
1.000 19 41970483 missense variant G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593
1.000 19 41970483 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593
1.000 19 41970483 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 27 1988 2017
dbSNP: rs200891944
rs200891944
19 41981976 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1988 2017
dbSNP: rs606231435
rs606231435
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 27 1988 2017
dbSNP: rs797044897
rs797044897
19 41984940 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1988 2017
dbSNP: rs80356537
rs80356537
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1988 2017
dbSNP: rs80356537
rs80356537
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.810 1.000 10 2004 2016
dbSNP: rs1064797245
rs1064797245
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 6 2015 2018
dbSNP: rs398122887
rs398122887
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 6 2012 2015
dbSNP: rs80356534
rs80356534
0.925 0.040 19 41978041 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.800 1.000 6 2004 2014
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 5 2009 2014
dbSNP: rs387907281
rs387907281
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.710 1.000 5 2012 2018
dbSNP: rs80356537
rs80356537
0.752 0.320 19 41970405 missense variant C/A;G;T snv
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1.000 5 2012 2016
dbSNP: rs1064797245
rs1064797245
0.776 0.280 19 41970540 missense variant G/A snv
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.700 1.000 4 2015 2017
dbSNP: rs1064797245
rs1064797245
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome
0.710 1.000 4 2015 2018
dbSNP: rs549006436
rs549006436
0.925 0.040 19 41970389 missense variant A/C;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 3 2012 2015
dbSNP: rs557052809
rs557052809
0.827 0.160 19 41975629 missense variant C/A;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 3 2012 2014
dbSNP: rs80356533
rs80356533
1.000 0.040 19 41985082 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.800 1.000 3 2004 2010
dbSNP: rs587777771
rs587777771
0.851 0.240 19 41970275 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 2 2014 2014
dbSNP: rs606231435
rs606231435
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 2 2015 2017
dbSNP: rs1057516032
rs1057516032
1.000 19 41970211 protein altering variant AGTCT/GA delins
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.700 1.000 1 2016 2016
dbSNP: rs1057516032
rs1057516032
1.000 19 41970211 protein altering variant AGTCT/GA delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 1.000 1 2016 2016