rs121913485, FGFR3

N. diseases: 18
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.
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.716 0.400 4 1804372 missense variant A/G snv 0.820 1.000 8 1995 2008
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 4 1996 2017
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 3 2009 2014
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 3 2009 2013
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 1 2001 2001
Papillary renal cell carcinoma, sporadic
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
30 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 1 2016 2016
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 1 2005 2005
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 1 2016 2016
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.716 0.400 4 1804372 missense variant A/G snv 0.700 0
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.716 0.400 4 1804372 missense variant A/G snv 0.040 0.750 4 2001 2011
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
66 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2007 2007
Childhood Lymphoma
CUI: C1332979
Disease: Childhood Lymphoma
66 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2007 2007
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2002 2002
Lymphoma
CUI: C0024299
Disease: Lymphoma
91 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2007 2007
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2015 2015
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
12 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 1998 1998
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
10 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2008 2008
Thanatophoric dysplasia, type 1
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
4 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 1998 1998