rs28933068, FGFR3

N. diseases: 30
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.
growth hormone treatment
CUI: C0744483
Disease: growth hormone treatment
1 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2012 2012
Hereditary Coproporphyria
CUI: C0162531
Disease: Hereditary Coproporphyria
11 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2012 2012
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
23 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2014 2014
Focal dysplasia
CUI: C0522618
Disease: Focal dysplasia
1 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2014 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2017 2017