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: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs1064797245
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 1.000 4 2015 2017
dbSNP: rs1057516032
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 1.000 1 2016 2016
dbSNP: rs80356534
rs80356534
ATP1A3
0.925 0.040 19 41978041 missense variant G/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 1.000 1 2004 2004
dbSNP: rs1131691940
rs1131691940
ATP1A3
1.000 19 41982096 missense variant G/A;T snv 8.0E-06
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs387907282
rs387907282
ATP1A3
0.925 0.040 19 41970296 missense variant A/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs398122887
rs398122887
ATP1A3
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs534926223
rs534926223
ATP1A3
1.000 19 41970490 missense variant G/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs536681257
rs536681257
ATP1A3
0.882 0.080 19 41970298 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs549006436
rs549006436
ATP1A3
0.925 0.040 19 41970389 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs557052809
rs557052809
ATP1A3
0.827 0.160 19 41975629 missense variant C/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs557939077
rs557939077
ATP1A3
1.000 19 41970494 missense variant G/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs587777771
rs587777771
ATP1A3
0.851 0.240 19 41970275 missense variant C/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231427
rs606231427
ATP1A3
1.000 19 41986168 missense variant T/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231428
rs606231428
ATP1A3
1.000 19 41984946 missense variant A/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231430
rs606231430
ATP1A3
1.000 19 41982102 missense variant C/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231431
rs606231431
ATP1A3
1.000 19 41982097 missense variant T/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231432
rs606231432
ATP1A3
1.000 19 41982028 missense variant C/A;G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0