Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs373584239
rs373584239
CIC
1 1.000 19 42290242 missense variant C/A;T snv 1.2E-05; 4.0E-06 0.800 1.000 2 2010 2017
dbSNP: rs1135401823
rs1135401823
CIC
1 1.000 19 42289013 stop gained C/T snv 0.700 0
dbSNP: rs1135401824
rs1135401824
CIC
1 1.000 19 42290567 frameshift variant -/AAGAGACC delins 0.700 0
dbSNP: rs1135401825
rs1135401825
CIC
1 1.000 19 42292173 stop gained C/T snv 0.700 0
dbSNP: rs1555769968
rs1555769968
CIC
1 1.000 19 42291338 frameshift variant ACCCACCACCAGCATC/- delins 0.700 0