rs1060499548, ABL1

N. diseases: 27
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
2 0.724 0.440 9 130872961 missense variant G/A snv 0.800 0
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Abnormality of skeletal morphology
CUI: C4023165
Disease: Abnormality of skeletal morphology
2 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
9 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Broad eyebrow
CUI: C1856121
Disease: Broad eyebrow
4 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Cutis marmorata
CUI: C0263401
Disease: Cutis marmorata
9 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Dimple chin
CUI: C4317152
Disease: Dimple chin
2 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Failure to gain weight
CUI: C0231246
Disease: Failure to gain weight
2 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Microstomia
CUI: C0026034
Disease: Microstomia
9 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Pneumothorax
CUI: C0032326
Disease: Pneumothorax
3 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Short stature
CUI: C0349588
Disease: Short stature
292 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Thin lips
CUI: C0578038
Disease: Thin lips
8 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
Thin skin
CUI: C0423757
Disease: Thin skin
4 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017