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: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.700 0