rs121909627, FGFR1

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.
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.850 1.000 11 1994 2014
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.800 1.000 1 2000 2000
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
45 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.700 1.000 10 1994 2014
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.030 1.000 3 1999 2014
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
11 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.030 1.000 3 2004 2017
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.020 1.000 2 1997 2000
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999