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: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C4024168
Disease: Thickened ears
Thickened ears 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C4073184
Disease: Thick hair
Thick hair 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 0
dbSNP: rs1261178797
rs1261178797
ASXL1
1.000 20 32434812 stop gained T/A;C snv 7.0E-06
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.700 0
dbSNP: rs1555912285
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2004 2015
dbSNP: rs1555912296
rs1555912296
ASXL1
20 32435501 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2004 2015
dbSNP: rs1555912897
rs1555912897
ASXL1
1.000 20 32436833 frameshift variant -/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2004 2015
dbSNP: rs754129466
rs754129466
ASXL1
1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2004 2015
dbSNP: rs1427299519
rs1427299519
ASXL1
1.000 20 32433315 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015
dbSNP: rs1555912419
rs1555912419
ASXL1
20 32435823 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015
dbSNP: rs777537805
rs777537805
ASXL1
1.000 20 32433740 frameshift variant TG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015