rs121918490, 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.
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.851 0.080 10 121517342 missense variant G/C snv 0.810 1.000 16 1994 2007
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.851 0.080 10 121517342 missense variant G/C snv 0.710 1.000 12 1994 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.080 10 121517342 missense variant G/C snv 0.700 1.000 26 1985 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.851 0.080 10 121517342 missense variant G/C snv 0.700 1.000 26 1985 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.851 0.080 10 121517342 missense variant G/C snv 0.700 1.000 26 1985 2017
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.851 0.080 10 121517342 missense variant G/C snv 0.010 1.000 1 1995 1995