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: rs1553849919
rs1553849919
DNAJB11 ; TBCCD1
3 0.882 0.240 3 186572187 missense variant C/G snv 0.800 1.000 1 2018 2018
dbSNP: rs1553850185
rs1553850185
DNAJB11
1 1.000 3 186575844 missense variant T/C snv 0.800 1.000 1 2018 2018
dbSNP: rs1351138670
rs1351138670
DNAJB11
1 1.000 3 186581393 frameshift variant C/- del 0.700 0
dbSNP: rs1553849920
rs1553849920
DNAJB11 ; TBCCD1
1 1.000 3 186572192 frameshift variant -/TT ins 0.700 0
dbSNP: rs941713150
rs941713150
DNAJB11
1 1.000 3 186582011 stop gained C/A;T snv 4.0E-06 0.700 0