rs121913116, FGFR3

N. diseases: 9
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.
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
9 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
CATSHL syndrome
CUI: C1864852
Disease: CATSHL syndrome
10 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
8 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
33 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
11 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006