rs864309487, GMNN

N. diseases: 20
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 small ears
CUI: C0152423
Disease: Congenital small ears
13 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
EAR, PATELLA, SHORT STATURE SYNDROME
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
12 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Microstomia
CUI: C0026034
Disease: Microstomia
9 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Mild global developmental delay
CUI: C4012968
Disease: Mild global developmental delay
13 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Patellar aplasia
CUI: C1868578
Disease: Patellar aplasia
3 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Severe postnatal growth retardation
CUI: C1857641
Disease: Severe postnatal growth retardation
5 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Shawl scrotum
CUI: C1858539
Disease: Shawl scrotum
2 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Short palpebral fissure
CUI: C0423112
Disease: Short palpebral fissure
16 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Simple syndactyly of toes, first web space
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
3 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Small anterior fontanelle
CUI: C1859455
Disease: Small anterior fontanelle
4 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Small hand
CUI: C0575802
Disease: Small hand
31 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Stenosis of external auditory canal
CUI: C0395837
Disease: Stenosis of external auditory canal
4 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
MEIER-GORLIN SYNDROME 6
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
3 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 0