rs78311289, FGFR3

N. diseases: 11
Source: CURATED ×
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 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
14 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.890 0.909 3 1995 2018
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
41 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.800 1.000 2 1999 2001
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
760 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.730 1.000 0 2000 2011
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
33 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 0.833 4 1998 2011
Acanthosis Nigricans
CUI: C0000889
Disease: Acanthosis Nigricans
4 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 1.000 1 2007 2011
Carcinoma
CUI: C0007097
Disease: Carcinoma
15 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.710 1.000 2 1999 2001
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
21 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.710 1.000 0 2011 2011
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
35 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
12 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2005 2005
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
71 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2009 2009
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