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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 2 | 19742712 | intergenic variant | G/A | snv | 0.11 | 0.800 | 1.000 | 5 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 13 | 110165755 | intron variant | T/A | snv | 9.3E-02 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 3 | 154122077 | missense variant | G/C | snv | 0.91 | 0.91 | 0.700 | 1.000 | 3 | 2017 | 2018 | |||
|
1 | 1.000 | 0.040 | 2 | 144528992 | intron variant | T/G | snv | 7.2E-02 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 30034963 | intron variant | G/A | snv | 0.34 | 0.710 | 1.000 | 3 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.040 | 3 | 49411133 | intron variant | A/C;T | snv | 0.700 | 1.000 | 3 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 119988346 | intergenic variant | A/C | snv | 0.23 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 99679373 | 3 prime UTR variant | C/G | snv | 0.39 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 20067099 | intron variant | C/G | snv | 0.56 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 54120131 | non coding transcript exon variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 10 | 102845159 | intron variant | T/G | snv | 0.10 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 151789832 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 133852013 | intron variant | A/C;G | snv | 0.30 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.040 | 16 | 57376022 | intron variant | T/G | snv | 0.74 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 44280862 | downstream gene variant | C/T | snv | 0.23 | 0.800 | 1.000 | 2 | 2007 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 124734175 | intron variant | T/G | snv | 0.10 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 143137332 | intron variant | C/T | snv | 0.42 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 132331660 | intron variant | A/G | snv | 9.5E-02 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 103802566 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.040 | 11 | 75563105 | 5 prime UTR variant | G/T | snv | 0.36 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 200676945 | intron variant | C/T | snv | 0.43 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 222650401 | intron variant | T/C;G | snv | 0.64 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 31913954 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 22612400 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 36666379 | regulatory region variant | A/G | snv | 0.64 | 0.710 | 1.000 | 2 | 2016 | 2018 |