Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131692266
rs1131692266
1.000 10 104225491 missense variant G/T snv
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.800 0
dbSNP: rs147356105
rs147356105
1.000 10 104203727 missense variant A/G snv 8.8E-05 1.9E-04
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.800 0
dbSNP: rs376788209
rs376788209
1.000 10 104230656 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.800 0
dbSNP: rs1554861288
rs1554861288
1.000 10 104148000 splice acceptor variant T/- del
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.700 0
dbSNP: rs1554862953
rs1554862953
1.000 10 104152728 splice acceptor variant T/G snv
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.700 0
dbSNP: rs1554882484
rs1554882484
1.000 10 104194005 frameshift variant -/A delins
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.700 0
dbSNP: rs373911488
rs373911488
1.000 10 104167627 stop gained A/G;T snv 2.9E-05
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.700 0
dbSNP: rs753300178
rs753300178
1.000 10 104196905 frameshift variant CA/- delins 2.4E-05 7.0E-06
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.700 0
dbSNP: rs760609580
rs760609580
1.000 10 104162023 stop gained G/A snv 3.6E-05 1.4E-05
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.700 0
dbSNP: rs768831533
rs768831533
1.000 10 104143452 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19
0.700 0