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: rs28942098
rs28942098
CDC73 ; LOC101929160
2 1.000 0.160 1 193122203 start lost G/A;T snv 0.710 1.000 1 2019 2019
dbSNP: rs121434262
rs121434262
CDC73 ; LOC101929160
1 1.000 0.160 1 193122225 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs587776559
rs587776559
CDC73
1 1.000 0.160 1 193130173 splice acceptor variant G/A 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: rs971586985
rs971586985
CDC73
3 1.000 0.160 1 193212458 missense variant G/A;T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs767363250
rs767363250
CASR
5 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs886041158
rs886041158
CDC73 ; LOC101929160
1 1.000 0.160 1 193125206 stop gained C/T snv 7.0E-06 0.010 1.000 1 2011 2011