Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs781563777
rs781563777
1.000 10 122488946 missense variant G/A;C;T snv 4.0E-06; 1.6E-05
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.800 1.000 1 2015 2015
dbSNP: rs864622781
rs864622781
1.000 10 122488926 missense variant G/A;T snv 4.0E-06
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.800 0
dbSNP: rs864622782
rs864622782
1.000 10 122506765 missense variant C/A snv
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.800 0
dbSNP: rs772225907
rs772225907
1.000 10 122514264 missense variant G/A;C snv 4.0E-06; 4.0E-06
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.700 1.000 1 2015 2015
dbSNP: rs1267457680
rs1267457680
1.000 10 122506884 missense variant A/C;G snv 7.0E-06
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.700 0
dbSNP: rs1273355332
rs1273355332
1.000 10 122488972 frameshift variant T/- del
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.700 0
dbSNP: rs1554948318
rs1554948318
1.000 10 122462011 missense variant G/A snv
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.700 0
dbSNP: rs1554950655
rs1554950655
1.000 10 122488965 missense variant T/A snv
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.700 0
dbSNP: rs1554952277
rs1554952277
1.000 10 122506740 missense variant G/C snv
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.700 0
dbSNP: rs1554952291
rs1554952291
1.000 10 122506778 stop gained C/T snv
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.700 0
dbSNP: rs201305795
rs201305795
1.000 10 122489616 missense variant T/C snv 1.2E-05 7.0E-06
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.700 0
dbSNP: rs864622783
rs864622783
1.000 10 122507369 splice acceptor variant G/A snv
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.700 0