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: rs140614802
rs140614802
ADSS1 ; LOC107984670
10 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
dbSNP: rs794729145
rs794729145
RBM20
1 10 110797587 missense variant T/C snv 0.010 1.000 1 2019 2019
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: 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: 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: rs1564664312
rs1564664312
RBM20
2 1.000 0.040 10 110821333 missense variant T/A snv 0.700 0
dbSNP: rs397516607
rs397516607
RBM20
4 0.925 0.040 10 110821356 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs727504859
rs727504859
RBM20
1 10 110821365 missense variant G/A snv 0.700 0
dbSNP: rs727504763
rs727504763
RBM20
1 10 110821880 frameshift variant CC/G delins 0.700 1.000 2 2009 2010
dbSNP: rs563762318
rs563762318
RBM20
1 10 110831154 missense variant G/A snv 2.8E-04 6.3E-05 0.700 0
dbSNP: rs143139258
rs143139258
MYL2
4 0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 0.700 0
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2002 2002
dbSNP: rs1436282251
rs1436282251
FOXD4
1 9 117678 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
4 0.925 0.040 6 118558946 missense variant C/T snv 0.710 1.000 10 2003 2018
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
4 0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 0.700 1.000 7 2006 2012
dbSNP: rs761056344
rs761056344
PLN ; CEP85L
3 0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 1.000 1 2003 2003
dbSNP: rs727502897
rs727502897
BAG3
1 10 119651742 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1554875409
rs1554875409
BAG3
1 10 119651752 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs727505283
rs727505283
BAG3
1 10 119651774 frameshift variant ACCGGCTG/- delins 0.700 0
dbSNP: rs1564773559
rs1564773559
BAG3
1 10 119669920 frameshift variant -/TGTGTAC delins 0.700 0
dbSNP: rs387906875
rs387906875
BAG3
3 0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs2234962
rs2234962
BAG3
3 1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15 0.800 1.000 1 2011 2011
dbSNP: rs876657634
rs876657634
BAG3
3 0.925 0.080 10 119672477 stop gained C/T snv 0.700 0
dbSNP: rs869025365
rs869025365
BAG3
1 10 119672657 splice donor variant G/A snv 0.700 0