Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 6 | 31116972 | stop gained | G/A;C | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 6 | 31117017 | stop gained | G/A | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 31117440 | stop gained | T/A | snv | 6.1E-06 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 6 | 31117447 | frameshift variant | -/CAGG | delins | 3.1E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 6 | 31117191 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 31116869 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
6 | 31116450 | missense variant | C/G | snv | 7.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 6 | 31116036 | missense variant | T/C;G | snv | 0.76 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | |||||||||
|
1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | |||||||||
|
1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | |||||||||
|
1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | |||||||||
|
1.000 | 6 | 31120157 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
1.000 | 6 | 31120157 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
1.000 | 6 | 31120157 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
1.000 | 6 | 31120157 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
0.925 | 0.080 | 6 | 31116036 | missense variant | T/C;G | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.925 | 0.080 | 6 | 31116036 | missense variant | T/C;G | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.925 | 0.080 | 6 | 31116036 | missense variant | T/C;G | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.925 | 0.080 | 6 | 31116036 | missense variant | T/C;G | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||||
|
1.000 | 6 | 31120157 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2009 | 2010 |