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: rs587777343
rs587777343
STUB1 ; JMJD8
5 0.925 0.120 16 682232 missense variant C/T snv 0.810 1.000 6 2013 2018
dbSNP: rs587777340
rs587777340
STUB1 ; JMJD8 ; LINC02867
1 1.000 0.080 16 681572 missense variant C/T snv 0.800 1.000 5 2013 2014
dbSNP: rs587777341
rs587777341
STUB1 ; JMJD8 ; LINC02867
1 1.000 0.080 16 681468 missense variant A/T snv 0.800 1.000 5 2013 2014
dbSNP: rs587777342
rs587777342
STUB1 ; JMJD8 ; LINC02867
1 1.000 0.080 16 681520 stop gained G/A;T snv 4.0E-06 0.800 1.000 5 2013 2014
dbSNP: rs587777344
rs587777344
STUB1 ; JMJD8 ; LINC02867
1 1.000 0.080 16 681446 missense variant C/G;T snv 8.0E-06 0.800 1.000 5 2013 2014
dbSNP: rs587777345
rs587777345
STUB1 ; JMJD8
1 1.000 0.080 16 682214 missense variant T/C snv 7.0E-06 0.800 1.000 5 2013 2014
dbSNP: rs587777347
rs587777347
STUB1 ; JMJD8 ; LINC02867
1 1.000 0.080 16 681228 missense variant C/A snv 0.800 1.000 5 2013 2014
dbSNP: rs587777346
rs587777346
STUB1 ; JMJD8 ; LINC02867
1 1.000 0.080 16 681227 missense variant G/A snv 4.1E-06 0.800 0
dbSNP: rs690016544
rs690016544
STUB1 ; JMJD8 ; LINC02867
3 0.882 0.160 16 681186 missense variant A/G snv 4.8E-06 0.800 0
dbSNP: rs146251364
rs146251364
STUB1 ; JMJD8 ; LINC02867
1 1.000 0.080 16 681512 missense variant A/C snv 5.9E-04 6.4E-04 0.700 1.000 5 2013 2014
dbSNP: rs1555475283
rs1555475283
STUB1 ; JMJD8
1 1.000 0.080 16 682047 frameshift variant -/T delins 0.700 0
dbSNP: rs1555475375
rs1555475375
STUB1 ; JMJD8
1 1.000 0.080 16 682189 inframe deletion TGTGGC/- del 0.700 0
dbSNP: rs1555475794
rs1555475794
STUB1 ; JMJD8
7 0.925 0.120 16 682729 3 prime UTR variant T/C snv 0.700 0
dbSNP: rs1567283195
rs1567283195
STUB1 ; JMJD8
1 1.000 0.080 16 682461 frameshift variant -/T delins 0.700 0
dbSNP: rs760424025
rs760424025
STUB1 ; JMJD8
1 1.000 0.080 16 682216 missense variant C/A;G;T snv 4.0E-06; 8.0E-06 0.700 0