rs387907260, KCTD7

N. diseases: 22
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
11 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.800 1.000 5 2007 2012
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Decreased palmar creases
CUI: C1857483
Disease: Decreased palmar creases
4 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
8 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Generalized myoclonic seizures
CUI: C4021759
Disease: Generalized myoclonic seizures
8 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Hallux Valgus
CUI: C0018536
Disease: Hallux Valgus
6 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
11 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Loss of speech
CUI: C0542223
Disease: Loss of speech
8 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Nevus flammeus nuchae
CUI: C4024829
Disease: Nevus flammeus nuchae
3 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Nevus flammeus of the forehead
CUI: C1848850
Disease: Nevus flammeus of the forehead
2 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0