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: rs28933399
rs28933399
ATP1A2
1.000 0.040 1 160136665 missense variant T/C snv
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.810 1.000 0 2003 2014
dbSNP: rs28933398
rs28933398
ATP1A2
1.000 0.040 1 160135845 missense variant T/C snv
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 1.000 0 2003 2014
dbSNP: rs28933400
rs28933400
ATP1A2
0.882 0.080 1 160135510 missense variant T/C snv
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 1.000 0 2003 2014
dbSNP: rs28933401
rs28933401
ATP1A2
0.882 0.120 1 160135246 missense variant G/A snv
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 1.000 0 2003 2014
dbSNP: rs28934002
rs28934002
ATP1A2
1.000 1 160128767 missense variant C/A;T snv
CUI: C3549447
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 		0.800 1.000 0 2004 2004
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: 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: rs1165052640
rs1165052640
ATP1A2
1.000 0.040 1 160129024 stop gained C/T snv 4.1E-06 7.0E-06
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.700 0
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: rs121918614
rs121918614
ATP1A2
1.000 0.040 1 160135470 missense variant G/A snv 7.0E-06
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