CRHR1, corticotropin releasing hormone receptor 1, 1394
N. diseases: 183; N. variants: 47
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 17 | 45830530 | stop lost | T/C | snv | 0.15 | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
0.851 | 0.160 | 17 | 45834159 | intron variant | C/T | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45835357 | 3 prime UTR variant | T/C | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45835216 | 3 prime UTR variant | C/T | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45835269 | 3 prime UTR variant | A/G | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45818862 | intron variant | T/C | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45825631 | non coding transcript exon variant | G/A | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45825631 | non coding transcript exon variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 45830530 | stop lost | T/C | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45830600 | non coding transcript exon variant | G/A | snv | 0.15 | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 17 | 45833141 | missense variant | C/T | snv | 0.15 | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 17 | 45833141 | missense variant | C/T | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45833670 | intron variant | G/A | snv | 0.14 | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 17 | 45834532 | intron variant | C/T | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 17 | 45829360 | splice region variant | A/C | snv | 0.15 | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
17 | 45815607 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 45821597 | intron variant | A/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 45827031 | non coding transcript exon variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 45829462 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.080 | 17 | 45832722 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
17 | 45816037 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 17 | 45822420 | intron variant | C/T | snv | 0.14 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 17 | 45822420 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 45828115 | intron variant | T/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 45828115 | intron variant | T/G | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 |