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: rs80356553
rs80356553
VCAN ; VCAN-AS1
1 1.000 0.040 5 83542269 splice donor variant G/A;T snv 0.700 1.000 4 2006 2013
dbSNP: rs80356554
rs80356554
VCAN ; VCAN-AS1
1 1.000 0.040 5 83537006 splice acceptor variant G/A;C;T snv 0.700 1.000 3 2006 2013
dbSNP: rs80356555
rs80356555
VCAN ; VCAN-AS1
1 1.000 0.040 5 83537005 splice acceptor variant A/G;T snv 0.700 1.000 2 2005 2011
dbSNP: rs397515437
rs397515437
VCAN ; VCAN-AS1
1 1.000 0.040 5 83542270 splice donor variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs80356556
rs80356556
VCAN ; VCAN-AS1
1 1.000 0.040 5 83537002 splice region variant T/A;C snv 0.700 1.000 1 2006 2006
dbSNP: rs864309744
rs864309744
VCAN ; VCAN-AS1
1 1.000 0.040 5 83537001 splice region variant T/A snv 0.700 1.000 1 2013 2013