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: rs1558284033
rs1558284033
RPL5 ; DIPK1A
4 0.851 0.080 1 92833637 frameshift variant AACA/- delins 0.700 1.000 3 2008 2013
dbSNP: rs1553121795
rs1553121795
RPL11
1 1.000 0.080 1 23693914 splice donor variant G/A snv 0.700 1.000 2 2008 2010
dbSNP: rs121434389
rs121434389
RPL11
2 0.925 0.080 1 23693872 stop gained C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1060503527
rs1060503527
RPL5 ; DIPK1A
1 1.000 0.080 1 92833603 stop gained C/G snv 0.700 0
dbSNP: rs1553121684
rs1553121684
RPL11
1 1.000 0.080 1 23692712 frameshift variant C/- delins 0.700 0
dbSNP: rs1553121909
rs1553121909
RPL5 ; DIPK1A
1 1.000 0.080 1 92834844 frameshift variant -/T delins 0.700 0
dbSNP: rs1558283792
rs1558283792
RPL5 ; DIPK1A
1 1.000 0.080 1 92833379 splice region variant CTTT/- delins 0.700 0
dbSNP: rs1558283853
rs1558283853
RPL5 ; DIPK1A
1 1.000 0.080 1 92833455 stop gained C/T snv 0.700 0
dbSNP: rs1558284062
rs1558284062
RPL5 ; DIPK1A
1 1.000 0.080 1 92833658 stop gained C/T snv 0.700 0
dbSNP: rs878854146
rs878854146
SNORD21 ; RPL5 ; DIPK1A
1 1.000 0.080 1 92836191 missense variant T/A;C snv 0.700 0
dbSNP: rs397507554
rs397507554
RPS7
2 0.925 0.080 2 3575889 splice donor variant G/A snv 0.700 0
dbSNP: rs116840807
rs116840807
RPL35A ; IQCG
2 0.925 0.080 3 197951225 inframe deletion CTT/- delins 0.700 0
dbSNP: rs116840808
rs116840808
RPL35A ; IQCG
2 0.925 0.080 3 197951244 missense variant G/A snv 0.700 0
dbSNP: rs116840809
rs116840809
RPL35A ; IQCG
2 0.925 0.080 3 197954142 stop gained C/T snv 0.700 0
dbSNP: rs104894189
rs104894189
RPS24
2 0.925 0.080 10 78035394 stop gained C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs886039545
rs886039545
RPS24
1 1.000 0.080 10 78033902 start lost A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs104894188
rs104894188
RPS24
2 0.925 0.080 10 78037230 stop gained C/T snv 0.700 0
dbSNP: rs116840806
rs116840806
RPS24
2 0.925 0.080 10 78035352 stop gained AAC/TACGGATAG delins 0.700 0
dbSNP: rs1554841994
rs1554841994
RPS24
2 0.925 0.080 10 78035589 missense variant A/C snv 0.700 0
dbSNP: rs781769052
rs781769052
PRMT3
1 1.000 0.080 11 20392223 missense variant A/G snv 4.2E-06 0.010 1.000 1 2011 2011
dbSNP: rs587777568
rs587777568
RN7SL1 ; RPS29 ; LOC107987206
2 0.925 0.080 14 49586021 missense variant T/A snv 0.010 1.000 1 2014 2014
dbSNP: rs587777569
rs587777569
RN7SL1 ; RPS29 ; LOC107987206
2 0.925 0.080 14 49585963 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs116840811
rs116840811
RPS17
2 0.925 0.080 15 82540427 start lost A/C snv 0.710 1.000 1 2010 2010
dbSNP: rs116840812
rs116840812
RPS17
2 0.925 0.080 15 82538939 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555524354
rs1555524354
TP53
5 0.925 0.080 17 7670626 frameshift variant C/- delins 0.700 0