rs121913484, FGFR3

N. diseases: 5
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 0.851 0.240 4 1804365 missense variant A/T snv 0.800 1.000 6 1995 1999
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2002 2002
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2014 2014
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2005 2005
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.851 0.240 4 1804365 missense variant A/T snv 0.700 0