Gene: HNRNPU ×
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: rs1135401732
rs1135401732
HNRNPU
1 1.000 0.040 1 244859303 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1135401733
rs1135401733
HNRNPU
3 1.000 0.040 1 244856757 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1135401734
rs1135401734
HNRNPU ; SNORA100
1 1.000 0.040 1 244855505 frameshift variant AG/- del 0.700 1.000 1 2017 2017
dbSNP: rs779453109
rs779453109
HNRNPU
1 1.000 0.040 1 244863648 frameshift variant GCCTTCCGCC/- delins 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017