Gene: RBM20 ×
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: rs267607002
rs267607002
RBM20
2 1.000 0.040 10 110812303 missense variant C/A;T snv 0.700 1.000 5 2009 2016
dbSNP: rs267607003
rs267607003
RBM20
3 0.925 0.040 10 110812310 missense variant C/A;G;T snv 0.700 1.000 4 2009 2012
dbSNP: rs267607004
rs267607004
RBM20
4 0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 0.700 1.000 3 2009 2013
dbSNP: rs727504763
rs727504763
RBM20
1 10 110821880 frameshift variant CC/G delins 0.700 1.000 2 2009 2010
dbSNP: rs397516607
rs397516607
RBM20
4 0.925 0.040 10 110821356 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1564664312
rs1564664312
RBM20
2 1.000 0.040 10 110821333 missense variant T/A snv 0.700 0
dbSNP: rs563762318
rs563762318
RBM20
1 10 110831154 missense variant G/A snv 2.8E-04 6.3E-05 0.700 0
dbSNP: rs727504859
rs727504859
RBM20
1 10 110821365 missense variant G/A snv 0.700 0
dbSNP: rs794729145
rs794729145
RBM20
1 10 110797587 missense variant T/C snv 0.010 1.000 1 2019 2019