Gene: COBLL1 ×
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: rs10195252
rs10195252
COBLL1
7 0.925 0.080 2 164656581 intron variant T/C snv 0.48 0.800 1.000 5 2010 2019
dbSNP: rs13389219
rs13389219
COBLL1
9 1.000 0.080 2 164672366 intron variant C/T snv 0.47 0.800 1.000 2 2013 2019
dbSNP: rs1128249
rs1128249
COBLL1
10 1.000 0.080 2 164672114 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12692737
rs12692737
COBLL1
3 2 164697799 non coding transcript exon variant C/A snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs409125
rs409125
COBLL1
1 2 164811133 intron variant T/A snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs6717858
rs6717858
COBLL1
1 2 164683151 3 prime UTR variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs7607980
rs7607980
COBLL1
8 1.000 0.080 2 164694691 missense variant T/C snv 0.11 0.13 0.700 1.000 1 2019 2019