rs121918502, FGFR2

N. diseases: 9
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.
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.790 0.160 10 121517351 missense variant G/C snv 0.710 1.000 17 1994 2014
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.790 0.160 10 121517351 missense variant G/C snv 0.820 1.000 15 1995 2014
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.790 0.160 10 121517351 missense variant G/C snv 0.710 1.000 5 1996 2014
Antley-Bixler Syndrome, Autosomal Dominant
13 0.790 0.160 10 121517351 missense variant G/C snv 0.800 1.000 1 2000 2000
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.790 0.160 10 121517351 missense variant G/C snv 0.010 1.000 1 2005 2005
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.790 0.160 10 121517351 missense variant G/C snv 0.010 1.000 1 2014 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.790 0.160 10 121517351 missense variant G/C snv 0.010 1.000 1 2016 2016
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.790 0.160 10 121517351 missense variant G/C snv 0.010 1.000 1 2018 2018
PFEIFFER SYNDROME, TYPE III
CUI: C4016345
Disease: PFEIFFER SYNDROME, TYPE III
1 0.790 0.160 10 121517351 missense variant G/C snv 0.700 0