rs864309488, GMNN

N. diseases: 14
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.
MEIER-GORLIN SYNDROME 6
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
3 0.776 0.440 6 24777296 missense variant A/G snv 0.800 0
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
9 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
EAR, PATELLA, SHORT STATURE SYNDROME
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
12 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
28 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Lumbar hyperlordosis
CUI: C1184923
Disease: Lumbar hyperlordosis
8 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Mild global developmental delay
CUI: C4012968
Disease: Mild global developmental delay
13 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Nasogastric tube feeding in infancy
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
9 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Patellar aplasia
CUI: C1868578
Disease: Patellar aplasia
3 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Severe postnatal growth retardation
CUI: C1857641
Disease: Severe postnatal growth retardation
5 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Stenosis of external auditory canal
CUI: C0395837
Disease: Stenosis of external auditory canal
4 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015