ANKH, ANKH inorganic pyrophosphate transport regulator, 56172
N. diseases: 89; N. variants: 25
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 14867839 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 5 | 14705556 | 3 prime UTR variant | T/C | snv | 0.72 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2005 | 2013 | |||||||
|
1.000 | 0.040 | 5 | 14722332 | intron variant | C/G;T | snv |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||||||
|
1.000 | 0.040 | 5 | 14783123 | intron variant | C/G | snv | 0.77 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.040 | 5 | 14781635 | intron variant | T/C;G | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
5 | 14748447 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 5 | 14769145 | missense variant | A/G | snv |
|
Musculoskeletal Diseases | 0.810 | 1.000 | 4 | 2002 | 2009 | ||||||||
|
1.000 | 0.040 | 5 | 14871434 | missense variant | G/A | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2002 | 2003 | ||||||||
|
1.000 | 0.040 | 5 | 14871435 | missense variant | G/T | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2002 | 2003 | ||||||||
|
0.925 | 0.080 | 5 | 14713644 | missense variant | C/T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 5 | 14711166 | 3 prime UTR variant | T/C | snv | 6.7E-02 | 9.0E-02 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.080 | 5 | 14747138 | intron variant | C/T | snv | 0.36 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 5 | 14711206 | inframe deletion | CTC/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 5 | 14713644 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 2 | 2001 | 2001 | ||||||||
|
1.000 | 0.080 | 5 | 14716716 | inframe deletion | AAG/- | delins |
|
Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 14716721 | inframe deletion | GAG/- | delins |
|
Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 14716832 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 14741837 | missense variant | A/C | snv |
|
Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 14713637 | missense variant | A/G | snv |
|
Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 14751196 | missense variant | C/T | snv | 3.1E-03 | 3.3E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1.000 | 0.080 | 5 | 14847222 | intron variant | G/A | snv | 0.55 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 5 | 14767983 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 14820818 | intron variant | C/T | snv | 0.29 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 5 | 14850985 | intron variant | C/G;T | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 14837223 | intron variant | A/C;T | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 |