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: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
0.800 0
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0026034
Disease: Microstomia
Microstomia
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0423757
Disease: Thin skin
Thin skin
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0152421
Disease: Macrotia
Macrotia
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0578038
Disease: Thin lips
Thin lips
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0032326
Disease: Pneumothorax
Pneumothorax
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4317152
Disease: Dimple chin
Dimple chin
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow
0.700 1.000 1 2017 2017