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: rs760591174
rs760591174
CDC73
1 1.000 0.080 1 193142016 frameshift variant AGAG/-;AGAGAG delins 0.700 1.000 3 2002 2014
dbSNP: rs1553278844
rs1553278844
CDC73 ; MIR1278
1 1.000 0.080 1 193135542 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1558276054
rs1558276054
CDC73 ; LOC101929160
1 1.000 0.080 1 193122201 start lost A/G snv 0.700 1.000 1 2007 2007
dbSNP: rs1558276082
rs1558276082
CDC73 ; LOC101929160
1 1.000 0.080 1 193122209 frameshift variant -/GCTTAGCGTCCTGCGACAGT delins 0.700 1.000 1 2010 2010
dbSNP: rs1060500009
rs1060500009
CDC73
1 1.000 0.080 1 193130178 frameshift variant A/- delins 0.700 0
dbSNP: rs1060500012
rs1060500012
CDC73
1 1.000 0.080 1 193142067 splice donor variant G/T snv 0.700 0
dbSNP: rs1060500019
rs1060500019
CDC73
1 1.000 0.080 1 193138111 frameshift variant GA/- delins 0.700 0
dbSNP: rs1060500020
rs1060500020
CDC73 ; LOC101929160
1 1.000 0.080 1 193122203 frameshift variant G/- delins 0.700 0
dbSNP: rs121434263
rs121434263
CDC73 ; LOC101929160
1 1.000 0.080 1 193122328 stop gained G/A snv 0.700 0
dbSNP: rs121434265
rs121434265
CDC73 ; LOC101929160
3 0.925 0.080 1 193125142 stop gained C/G snv 0.700 0
dbSNP: rs1553279085
rs1553279085
CDC73
1 1.000 0.080 1 193138141 frameshift variant -/A delins 0.700 0
dbSNP: rs1553279088
rs1553279088
CDC73
1 1.000 0.080 1 193138166 stop gained C/T snv 0.700 0
dbSNP: rs1553288362
rs1553288362
CDC73
1 1.000 0.080 1 193212082 frameshift variant C/- delins 0.700 0
dbSNP: rs1558276157
rs1558276157
CDC73 ; LOC101929160
1 1.000 0.080 1 193122253 frameshift variant TT/- del 0.700 0
dbSNP: rs587776560
rs587776560
CDC73 ; LOC101929160
1 1.000 0.080 1 193122282 frameshift variant G/- delins 0.700 0
dbSNP: rs587776561
rs587776561
CDC73 ; LOC101929160
1 1.000 0.080 1 193122212 inframe deletion CTTAGCGTCCTGCGACAG/- delins 0.700 0
dbSNP: rs794727303
rs794727303
CDC73 ; LOC101929160
1 1.000 0.080 1 193125218 splice donor variant G/C;T snv 0.700 0
dbSNP: rs80356649
rs80356649
CDC73
3 0.882 0.160 1 193142016 frameshift variant -/AG ins 4.0E-06 0.700 0
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs121434264
rs121434264
CDC73 ; LOC101929160
6 0.851 0.080 1 193125171 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs374453691
rs374453691
PCA3 ; PRUNE2
2 0.925 0.080 9 76707245 missense variant C/T snv 2.0E-04 1.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs756406117
rs756406117
PTH
1 1.000 0.080 11 13492786 missense variant C/A snv 4.0E-06 0.010 1.000 1 2016 2016