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: rs121434430
rs121434430
CUBN
2 0.925 0.240 10 17041160 missense variant G/A snv 3.3E-04 2.7E-04 0.810 1.000 2 1999 2000
dbSNP: rs386834176
rs386834176
AMN
1 1.000 0.240 14 102929477 missense variant G/T snv 0.800 1.000 6 2003 2018
dbSNP: rs146047781
rs146047781
CUBN
1 1.000 0.240 10 17127827 splice donor variant A/G snv 1.5E-04 1.2E-04 0.700 1.000 3 2004 2015
dbSNP: rs1555381485
rs1555381485
AMN
1 1.000 0.240 14 102929537 splice donor variant G/A snv 0.700 1.000 2 2003 2012
dbSNP: rs969552874
rs969552874
AMN
1 1.000 0.240 14 102929923 splice acceptor variant G/C snv 1.4E-05 0.700 1.000 2 2003 2012
dbSNP: rs1168074679
rs1168074679
CUBN
1 1.000 0.240 10 16940068 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs119478058
rs119478058
AMN
2 0.925 0.240 14 102923789 missense variant C/A;T snv 1.6E-05 0.700 0
dbSNP: rs137998687
rs137998687
CUBN
1 1.000 0.240 10 16906209 stop gained G/A;C snv 9.1E-05; 4.0E-06 0.700 0
dbSNP: rs143944436
rs143944436
CUBN
1 1.000 0.240 10 16940152 stop gained G/A snv 1.3E-04 1.8E-04 0.700 0
dbSNP: rs144077391
rs144077391
AMN
1 1.000 0.240 14 102929087 non coding transcript exon variant G/A;C snv 1.4E-05; 1.5E-03 0.700 0
dbSNP: rs145661597
rs145661597
CUBN
1 1.000 0.240 10 16984171 stop gained G/A;T snv 3.6E-05; 4.0E-06 0.700 0
dbSNP: rs1554790861
rs1554790861
CUBN
1 1.000 0.240 10 16904073 stop gained G/T snv 0.700 0
dbSNP: rs1564379463
rs1564379463
CUBN
1 1.000 0.240 10 16840413 stop gained G/A snv 0.700 0
dbSNP: rs1564435513
rs1564435513
CUBN
1 1.000 0.240 10 16939149 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1564435943
rs1564435943
CUBN
1 1.000 0.240 10 16940050 stop gained G/A snv 0.700 0
dbSNP: rs1564443979
rs1564443979
CUBN
1 1.000 0.240 10 16952324 frameshift variant A/- delins 0.700 0
dbSNP: rs1564492988
rs1564492988
CUBN
1 1.000 0.240 10 17045951 stop gained C/T snv 0.700 0
dbSNP: rs182512508
rs182512508
CUBN
1 1.000 0.240 10 17085756 stop gained G/A;C snv 1.2E-03 0.700 0
dbSNP: rs375774640
rs375774640
AMN
1 1.000 0.240 14 102923978 missense variant T/A;C snv 4.0E-06; 7.2E-05 0.700 0
dbSNP: rs386833766
rs386833766
CUBN
1 1.000 0.240 10 17105456 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs386833767
rs386833767
CUBN
1 1.000 0.240 10 17103219 stop gained G/C snv 0.700 0
dbSNP: rs386833768
rs386833768
CUBN
1 1.000 0.240 10 17103129 frameshift variant C/- delins 0.700 0
dbSNP: rs386833769
rs386833769
CUBN
1 1.000 0.240 10 17103125 splice region variant C/T snv 0.700 0
dbSNP: rs386833770
rs386833770
CUBN
1 1.000 0.240 10 17088273 frameshift variant C/- delins 0.700 0
dbSNP: rs386833771
rs386833771
CUBN
1 1.000 0.240 10 17088246 frameshift variant G/- del 8.0E-06 7.0E-06 0.700 0