rs121918505, FGFR2

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.
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.851 0.080 10 121520119 missense variant A/G snv 0.810 1.000 17 1994 2019
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.851 0.080 10 121520119 missense variant A/G snv 0.010 1.000 1 2019 2019
Degenerative polyarthritis
CUI: C0029408
Disease: Degenerative polyarthritis
247 0.851 0.080 10 121520119 missense variant A/G snv 0.010 1.000 1 2019 2019
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.851 0.080 10 121520119 missense variant A/G snv 0.710 1.000 1 2001 2001
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.851 0.080 10 121520119 missense variant A/G snv 0.700 0