rs121918497, FGFR2

N. diseases: 8
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 0.776 0.160 10 121520052 missense variant T/G snv 0.810 1.000 17 1994 2007
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.776 0.160 10 121520052 missense variant T/G snv 0.800 1.000 5 1994 1998
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.776 0.160 10 121520052 missense variant T/G snv 0.720 1.000 2 2009 2014
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2014 2014
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2001 2001
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2015 2015
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2015 2015
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2006 2006