Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0542223
Disease: Loss of speech
Loss of speech 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C4024829
Disease: Nevus flammeus nuchae
Nevus flammeus nuchae 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		0.700 0