rs752450983, C19orf12

N. diseases: 4
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.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
CUI: C3280371
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
18 0.882 19 29702977 missense variant C/A;G;T snv 1.2E-05; 7.2E-05; 1.2E-05 0.800 1.000 11 2011 2015
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
CUI: C2680446
Disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
3 0.882 19 29702977 missense variant C/A;G;T snv 1.2E-05; 7.2E-05; 1.2E-05 0.700 1.000 2 2011 2013
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 19 29702977 missense variant C/A;G;T snv 1.2E-05; 7.2E-05; 1.2E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 19 29702977 missense variant C/A;G;T snv 1.2E-05; 7.2E-05; 1.2E-05 0.700 0