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: rs1165052640
rs1165052640
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: rs1558010146
rs1558010146
1.000 0.080 1 160139668 stop gained G/T snv
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
0.700 0
dbSNP: rs1558010146
rs1558010146
1.000 0.080 1 160139668 stop gained G/T snv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
0.700 0
dbSNP: rs1553245178
rs1553245178
1 160130548 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 12 1992 2017
dbSNP: rs1553245943
rs1553245943
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
1.000 0.080 1 160137001 missense variant G/A snv
Hemiplegic migraine, familial type 1
0.700 1.000 4 2008 2017
dbSNP: rs149144720
rs149144720
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
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
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: rs121918612
rs121918612
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
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
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
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
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
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: rs121918617
rs121918617
1.000 0.040 1 160127660 missense variant T/C snv 7.0E-06
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
0.700 0
dbSNP: rs121918620
rs121918620
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: rs1226796744
rs1226796744
1.000 0.040 1 160139675 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine
0.700 0
dbSNP: rs1558008759
rs1558008759
1.000 0.040 1 160135988 missense variant G/C snv
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine
0.700 0
dbSNP: rs28933398
rs28933398
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: rs28933399
rs28933399
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: rs28933400
rs28933400
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
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
1.000 1 160128767 missense variant C/A;T snv
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
0.800 1.000 0 2004 2004
dbSNP: rs869025341
rs869025341
1.000 0.040 1 160124371 missense variant G/A snv
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
0.700 0