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: C4073184
Disease: Thick hair
Thick hair 		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: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C1866231
Disease: Full cheeks
Full cheeks 		0.700 0
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: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		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: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		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: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0042798
Disease: Low Vision
Low Vision 		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: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0