rs28931614, FGFR3

N. diseases: 15
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 0.672 0.520 4 1804392 missense variant G/A;C snv 0.900 0.981 0 1994 2020
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.672 0.520 4 1804392 missense variant G/A;C snv 0.800 0
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.780 1.000 0 1995 2020
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
12 0.672 0.520 4 1804392 missense variant G/A;C snv 0.720 1.000 0 1996 2002
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
33 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 1.000 5 1996 2015
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
7 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
CATSHL syndrome
CUI: C1864852
Disease: CATSHL syndrome
10 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
7 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
100 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
8 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
32 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
10 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
17 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
7 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
14 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0