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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 34 1985 2016
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.020 1.000 2 2007 2017
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
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.800 0.962 26 1996 2020
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.750 1.000 5 1998 2020