rs28931615, FGFR3

N. diseases: 13
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.
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
8 0.732 0.240 4 1804426 missense variant C/A;T snv 0.870 1.000 12 1995 2019
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.732 0.240 4 1804426 missense variant C/A;T snv 0.700 1.000 7 1995 2013
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.732 0.240 4 1804426 missense variant C/A;T snv 0.700 1.000 1 2009 2009
Acanthosis Nigricans
CUI: C0000889
Disease: Acanthosis Nigricans
11 0.732 0.240 4 1804426 missense variant C/A;T snv 0.040 1.000 4 1996 2019
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 2006 2015
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 2006 2015
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 1996 2019
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 1996 2019
Malignant neoplasm of urinary bladder
316 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 2006 2015
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.732 0.240 4 1804426 missense variant C/A;T snv 0.010 1.000 1 2001 2001
Atresia
CUI: C0243066
Disease: Atresia
1 0.732 0.240 4 1804426 missense variant C/A;T snv 0.010 1.000 1 2000 2000
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.732 0.240 4 1804426 missense variant C/A;T snv 0.010 1.000 1 2019 2019
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.732 0.240 4 1804426 missense variant C/A;T snv 0.010 1 2006 2006