Source: ALL

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: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C4022715
Disease: Hypoplastic female external genitalia
Hypoplastic female external genitalia 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C4025406
Disease: Abnormality of the middle phalanx of the 5th finger
Abnormality of the middle phalanx of the 5th finger 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0014390
Disease: Entropion
Entropion 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 6 		0.700 0