rs864309486, GMNN

N. diseases: 21
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.
Abnormality of the middle phalanx of the 5th finger
CUI: C4025406
Disease: Abnormality of the middle phalanx of the 5th finger
1 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Atresia of the external auditory canal
CUI: C1866190
Disease: Atresia of the external auditory canal
3 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
13 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
EAR, PATELLA, SHORT STATURE SYNDROME
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
12 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Entropion
CUI: C0014390
Disease: Entropion
1 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Hypoplastic female external genitalia
CUI: C4022715
Disease: Hypoplastic female external genitalia
1 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Nasogastric tube feeding in infancy
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
9 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Patellar aplasia
CUI: C1868578
Disease: Patellar aplasia
3 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Severe failure to thrive
CUI: C1855514
Disease: Severe failure to thrive
4 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Severe postnatal growth retardation
CUI: C1857641
Disease: Severe postnatal growth retardation
5 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Subglottic stenosis
CUI: C0238441
Disease: Subglottic stenosis
2 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Tracheomalacia
CUI: C0948187
Disease: Tracheomalacia
5 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
MEIER-GORLIN SYNDROME 6
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
3 0.763 0.320 6 24777262 stop gained A/T snv 0.700 0