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.
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
9 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
7 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Bell-shaped thorax
CUI: C1865186
Disease: Bell-shaped thorax
7 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Bowed humerus
CUI: C1859460
Disease: Bowed humerus
1 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
CATSHL syndrome
CUI: C1864852
Disease: CATSHL syndrome
10 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
7 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
100 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
8 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Disproportionate short-limb short stature
CUI: C1849937
Disease: Disproportionate short-limb short stature
5 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Femoral bowing
CUI: C1859461
Disease: Femoral bowing
13 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
21 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Hypoplasia involving bones of the upper limbs
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
3 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Hypoplasia of lower limb
CUI: C0345371
Disease: Hypoplasia of lower limb
3 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
32 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Lethal short-limbed short stature
CUI: C2674171
Disease: Lethal short-limbed short stature
1 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
10 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
7 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
12 0.630 0.680 4 1801837 missense variant C/T snv 0.830 0.889 0 1995 2011