rs121918488, FGFR2

N. diseases: 6
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.
Antley-Bixler Syndrome, Autosomal Dominant
4 0.801 0.107 10 121517379 missense variant A/C,G,T snp 0.800 6 1995 2016
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
6 0.801 0.107 10 121517379 missense variant A/C,G,T snp 0.800 6 1995 2016
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
18 0.801 0.107 10 121517379 missense variant A/C,G,T snp 0.720 1.000 3 1999 2016
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
32 0.801 0.107 10 121517379 missense variant A/C,G,T snp 0.710 1.000 7 1995 2016
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
31 0.801 0.107 10 121517379 missense variant A/C,G,T snp 0.710 1.000 1 2013 2013
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
37 0.801 0.107 10 121517379 missense variant A/C,G,T snp 0.010 1.000 1 1999 1999