rs121913485, FGFR3

N. diseases: 8
Source: INFERRED ×
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)
0.716 0.400 4 1804372 missense variant A/G snv 0.820 1.000 0 1995 2008
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
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
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
0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 3 2009 2013
Carcinoma
CUI: C0007097
Disease: Carcinoma
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
0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
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
0.716 0.400 4 1804372 missense variant A/G snv 0.700 0