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: rs1553245178
rs1553245178
ATP1A2
1 160130548 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 12 1992 2017
dbSNP: rs1553245943
rs1553245943
ATP1A2
1.000 0.080 1 160137001 missense variant G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 12 1992 2017
dbSNP: rs1553245943
rs1553245943
ATP1A2
1.000 0.080 1 160137001 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.700 1.000 4 2008 2017
dbSNP: rs149144720
rs149144720
ATP1A2
1.000 0.040 1 160136570 missense variant G/A snv
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.700 1.000 3 2009 2014
dbSNP: rs1553245857
rs1553245857
ATP1A2
1.000 0.040 1 160136370 missense variant G/A snv
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.700 1.000 2 2009 2014
dbSNP: rs1553245771
rs1553245771
ATP1A2
0.882 0.040 1 160135461 missense variant G/A snv
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.700 1.000 1 2011 2011
dbSNP: rs1558005340
rs1558005340
ATP1A2
0.851 0.280 1 160127638 frameshift variant C/- del
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.700 1.000 1 2020 2020
dbSNP: rs1558005340
rs1558005340
ATP1A2
0.851 0.280 1 160127638 frameshift variant C/- del
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 1.000 1 2020 2020
dbSNP: rs1558005340
rs1558005340
ATP1A2
0.851 0.280 1 160127638 frameshift variant C/- del
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2020 2020
dbSNP: rs1558005340
rs1558005340
ATP1A2
0.851 0.280 1 160127638 frameshift variant C/- del
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
0.851 0.280 1 160135284 frameshift variant GT/- delins
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
0.851 0.280 1 160135284 frameshift variant GT/- delins
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
0.851 0.280 1 160135284 frameshift variant GT/- delins
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
0.851 0.280 1 160135284 frameshift variant GT/- delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2020 2020
dbSNP: rs121918612
rs121918612
ATP1A2
0.925 0.040 1 160127704 missense variant G/A snv
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.720 1.000 0 2004 2018
dbSNP: rs121918613
rs121918613
ATP1A2
0.925 0.080 1 160128667 missense variant A/G snv
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.700 0
dbSNP: rs121918615
rs121918615
ATP1A2
0.925 0.040 1 160139735 missense variant C/T snv
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.700 0
dbSNP: rs121918615
rs121918615
ATP1A2
0.925 0.040 1 160139735 missense variant C/T snv
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.700 0
dbSNP: rs121918616
rs121918616
ATP1A2
0.882 0.080 1 160130283 missense variant G/A snv 4.0E-06
CUI: C1865323
Disease: Migraine, Familial Basilar
Migraine, Familial Basilar 		0.700 0
dbSNP: rs121918620
rs121918620
ATP1A2
1.000 0.040 1 160128761 missense variant C/G;T snv
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.700 0
dbSNP: rs1558003446
rs1558003446
ATP1A2
1.000 0.080 1 160123327 frameshift variant -/TC delins
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		0.700 0
dbSNP: rs1558003446
rs1558003446
ATP1A2
1.000 0.080 1 160123327 frameshift variant -/TC delins
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.700 0
dbSNP: rs1558008759
rs1558008759
ATP1A2
1.000 0.040 1 160135988 missense variant G/C snv
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.700 0
dbSNP: rs1558010146
rs1558010146
ATP1A2
1.000 0.080 1 160139668 stop gained G/T snv
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		0.700 0
dbSNP: rs1558010146
rs1558010146
ATP1A2
1.000 0.080 1 160139668 stop gained G/T snv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.700 0