rs201037487, FAM98C

N. diseases: 7
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.
Asphyxiating Thoracic Dystrophy 1
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
11 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
Micronychia (disorder)
CUI: C0263523
Disease: Micronychia (disorder)
5 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
Prominent occiput
CUI: C1853737
Disease: Prominent occiput
1 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
Short extremities
CUI: C0239399
Disease: Short extremities
10 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0