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: rs1554603550
rs1554603550
CHD7
8 60850514 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs1554603589
rs1554603589
CHD7
8 60850623 splice donor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1999 2016
dbSNP: rs1554604059
rs1554604059
CHD7
8 60852866 frameshift variant AG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs1554605030
rs1554605030
CHD7
8 60856559 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs797044919
rs797044919
CHD7
8 60845364 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 1 2015 2015
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs587783446
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs587783446
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs587783446
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0