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: rs1554196907
rs1554196907
PHIP ; IRAK1BP1
1.000 6 78961775 stop gained G/A snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1554212744
rs1554212744
PHIP
1.000 6 79060709 frameshift variant AA/- delins
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562128924
rs1562128924
PHIP ; IRAK1BP1
1.000 6 78963185 stop gained A/C snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562189451
rs1562189451
PHIP
1.000 6 79026060 stop gained A/C snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs768324201
rs768324201
PHIP
1.000 6 79060680 missense variant G/A;T snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.800 1.000 0 2012 2018
dbSNP: rs878854420
rs878854420
PHIP
1.000 6 79077904 missense variant A/G snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.800 1.000 0 2012 2018
dbSNP: rs878854421
rs878854421
PHIP
1.000 6 79025986 frameshift variant A/- delins
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C1837463
Disease: Narrow face
Narrow face 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0