rs121913105, 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.
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
9 0.653 0.600 4 1806163 missense variant A/C;T snv 0.850 1.000 5 1999 2018
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.653 0.600 4 1806163 missense variant A/C;T snv 0.840 1.000 10 1995 2016
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.653 0.600 4 1806163 missense variant A/C;T snv 0.800 1.000 6 1994 2002
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.653 0.600 4 1806163 missense variant A/C;T snv 0.730 0.667 3 1999 2018
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 0.653 0.600 4 1806163 missense variant A/C;T snv 0.720 1.000 2 2008 2018
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.653 0.600 4 1806163 missense variant A/C;T snv 0.710 0.833 6 1999 2016
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 1.000 1 2005 2005
CATSHL syndrome
CUI: C1864852
Disease: CATSHL syndrome
10 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
283 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
8 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
33 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
31 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
11 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
CUI: C4225629
Disease: SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
1 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
Acanthosis Nigricans
CUI: C0000889
Disease: Acanthosis Nigricans
11 0.653 0.600 4 1806163 missense variant A/C;T snv 0.040 1.000 4 1999 2018
Familial acanthosis nigricans
CUI: C2930792
Disease: Familial acanthosis nigricans
1 0.653 0.600 4 1806163 missense variant A/C;T snv 0.020 1.000 2 2007 2018
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
26 0.653 0.600 4 1806163 missense variant A/C;T snv 0.020 1.000 2 2015 2016
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.653 0.600 4 1806163 missense variant A/C;T snv 0.020 1.000 2 2015 2016
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 2017 2017
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
66 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 2007 2007
Childhood Lymphoma
CUI: C1332979
Disease: Childhood Lymphoma
66 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 2007 2007
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 1999 1999