rs78311289, FGFR3

N. diseases: 25
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.
Spermatocytic seminoma
CUI: C0334517
Disease: Spermatocytic seminoma
2 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 0.833 6 1998 2011
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.890 0.909 11 1995 2018
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.060 1.000 6 1995 2013
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
10 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.050 1.000 5 1995 2013
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.710 1.000 3 1999 2001
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.730 1.000 3 2000 2011
Acanthosis Nigricans
CUI: C0000889
Disease: Acanthosis Nigricans
11 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 1.000 2 2007 2011
Malignant neoplasm of urinary bladder
316 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.800 1.000 2 1999 2001
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
26 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.020 1.000 2 2001 2007
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
9 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2000 2000
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2013 2013
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
Chondrosarcoma
CUI: C0008479
Disease: Chondrosarcoma
8 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2013 2013
Disorder of skeletal system
CUI: C0263661
Disease: Disorder of skeletal system
1 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2003 2003
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
64 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.710 1.000 1 2011 2011
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2011 2011
Mucopolysaccharidosis IV
CUI: C0026707
Disease: Mucopolysaccharidosis IV
9 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2007 2007
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2001 2001
Plasmacytoma
CUI: C0032131
Disease: Plasmacytoma
8 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2011 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2011 2011
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2005 2005
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2001 2001
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
93 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2009 2009