rs121913482, FGFR3

N. diseases: 35
Source: CLINVAR ×
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.
Short stature
CUI: C0349588
Disease: Short stature
292 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
1 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
14 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
135 0.630 0.680 4 1801837 missense variant C/T snv 0.710 1.000 1 2015 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 0.630 0.680 4 1801837 missense variant C/T snv 0.700 1.000 1 2014 2014
Carcinoma
CUI: C0007097
Disease: Carcinoma
15 0.630 0.680 4 1801837 missense variant C/T snv 0.700 1.000 1 1999 1999
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
76 0.630 0.680 4 1801837 missense variant C/T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
179 0.630 0.680 4 1801837 missense variant C/T snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
141 0.630 0.680 4 1801837 missense variant C/T snv 0.700 1.000 1 2016 2016