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: rs1064796472
rs1064796472
SON
1 21 33552565 stop gained C/T snv 0.700 0
dbSNP: rs1114167303
rs1114167303
SON
3 0.925 0.120 21 33553079 frameshift variant GGTAT/- delins 0.700 0
dbSNP: rs1275312464
rs1275312464
SON
1 21 33552787 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1555898531
rs1555898531
SON
1 21 33551596 frameshift variant A/- del 0.700 0
dbSNP: rs1569050345
rs1569050345
SON ; MIR6501
1 21 33549495 frameshift variant A/- delins 0.700 0
dbSNP: rs1569053308
rs1569053308
SON ; MIR6501
1 21 33551112 frameshift variant AG/- del 0.700 0
dbSNP: rs1569055781
rs1569055781
SON
1 21 33552827 frameshift variant -/GC delins 0.700 0
dbSNP: rs1569056484
rs1569056484
SON
1 21 33553283 frameshift variant C/- delins 0.700 0
dbSNP: rs1569057333
rs1569057333
SON
1 21 33553778 frameshift variant -/G delins 0.700 0
dbSNP: rs1569058041
rs1569058041
SON
1 21 33554229 inframe deletion GATTTACCATCTAAT/- delins 0.700 0
dbSNP: rs1569059792
rs1569059792
SON
1 21 33555318 frameshift variant C/- del 0.700 0
dbSNP: rs769691894
rs769691894
SON
1 21 33553375 inframe deletion TGGAGCCTTCGGTTGTGACTGTCC/- delins 4.2E-05 0.700 0
dbSNP: rs778418096
rs778418096
SON ; MIR6501
1 21 33549608 frameshift variant A/- delins 0.700 0
dbSNP: rs886039773
rs886039773
SON
3 0.925 0.120 21 33554982 frameshift variant TTAG/- delins 0.700 0
dbSNP: rs886039774
rs886039774
SON
2 21 33554777 frameshift variant GA/- delins 0.700 0
dbSNP: rs886039775
rs886039775
SON
1 21 33555232 frameshift variant -/CC delins 0.700 0
dbSNP: rs886039776
rs886039776
SON
1 21 33553871 frameshift variant A/- del 0.700 0
dbSNP: rs886039777
rs886039777
SON ; MIR6501
3 0.925 0.120 21 33549517 stop gained C/T snv 0.700 0
dbSNP: rs886039778
rs886039778
SON
3 0.925 0.120 21 33552303 frameshift variant -/A delins 0.700 0
dbSNP: rs886039779
rs886039779
SON
3 0.925 0.120 21 33557227 frameshift variant C/- delins 0.700 0