rs79184941, FGFR2

N. diseases: 41
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.
Acrocephalosyndactylia
CUI: C1510455
Disease: Acrocephalosyndactylia
1 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 1 2000 2000
Ramer Ladda syndrome
CUI: C2930865
Disease: Ramer Ladda syndrome
2 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2003 2003
Scaphycephaly
CUI: C0265534
Disease: Scaphycephaly
8 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2010 2010
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
9 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
10 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
Abnormality of the skull
CUI: C0235942
Disease: Abnormality of the skull
11 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 2014 2017
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
11 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2010 2010
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
12 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 3 2008 2012
Ptosis
CUI: C0033377
Disease: Ptosis
12 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
13 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2010 2010
Antley-Bixler Syndrome, Autosomal Dominant
13 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
Cutis Gyrata Syndrome of Beare And Stevenson
16 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.800 0.960 25 1995 2018
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.030 1.000 3 1998 2004
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 1997 2014
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
Endometrial Neoplasms
CUI: C0014170
Disease: Endometrial Neoplasms
32 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 2 2011 2014
Lacrimoauriculodentodigital syndrome
33 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.710 1.000 9 1995 2015
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.720 1.000 2 1997 2014
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2006 2006