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 | 5 | 173233142 | frameshift variant | CCG/AT | delins | 0.700 | 1.000 | 2 | 1998 | 1999 | |||||||
|
1 | 6 | 42960279 | upstream gene variant | C/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 40807221 | intron variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 141204588 | intron variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 15 | 79885941 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 14 | 27023434 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 9 | 125915818 | missense variant | C/T | snv | 7.2E-03 | 6.1E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 14 | 40922047 | intergenic variant | G/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 60508428 | downstream gene variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 30855983 | regulatory region variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 43076866 | 5 prime UTR variant | C/G | snv | 0.88 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 79114164 | intron variant | C/T | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 79113573 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 9320073 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 17138170 | 3 prime UTR variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 114227412 | intron variant | T/C | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 16349610 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 8 | 59275232 | regulatory region variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 67579946 | upstream gene variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 173233212 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||||
|
2 | 14 | 23413792 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 4 | 175023930 | downstream gene variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 17 | 44075780 | missense variant | G/A;C | snv | 4.0E-06; 5.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 12 | 4372733 | non coding transcript exon variant | -/A;G | ins | 4.0E-06; 0.12; 4.0E-06; 4.0E-06 | 0.10 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 7 | 35247689 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 |