rs121913479, FGFR3

N. diseases: 10
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 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.810 1.000 6 1995 1999
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.800 0
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 2009 2014
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 1999 2001
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2005 2005
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.700 0
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 1999 2002
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 1999 1999
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
10 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 1998 1998