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: rs121434640
rs121434640
DDB2
1 1.000 0.160 11 47234872 missense variant G/A snv 2.0E-05 2.1E-05 0.800 1.000 1 1996 1996
dbSNP: rs121434639
rs121434639
DDB2
1 1.000 0.160 11 47234784 missense variant A/G snv 0.710 < 0.001 1 2014 2014
dbSNP: rs121434641
rs121434641
DDB2
1 1.000 0.160 11 47235326 stop gained C/T snv 0.700 0
dbSNP: rs121434642
rs121434642
DDB2
1 1.000 0.160 11 47235308 missense variant G/T snv 0.700 0
dbSNP: rs1281033732
rs1281033732
DDB2
1 1.000 0.160 11 47237862 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs866982082
rs866982082
RNF40 ; ZNF629
1 1.000 0.160 16 30783282 missense variant A/G snv 4.8E-05 0.010 1.000 1 2000 2000