rs77543610, FGFR2

N. diseases: 28
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
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
13 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
10 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
16 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
33 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
9 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
Ramer Ladda syndrome
CUI: C2930865
Disease: Ramer Ladda syndrome
2 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2003 2003
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.667 0.560 10 121520160 missense variant G/C snv 0.060 1.000 6 1996 2004
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
Myopia
CUI: C0027092
Disease: Myopia
167 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
Ptosis
CUI: C0033377
Disease: Ptosis
12 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
Superior rectus muscle underaction
CUI: C4703722
Disease: Superior rectus muscle underaction
1 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2008 2008
Congenital premature fusion
CUI: C0332877
Disease: Congenital premature fusion
1 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2008 2008
Deformity
CUI: C0302142
Disease: Deformity
26 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2008 2008
Head and Neck Neoplasms
CUI: C0018671
Disease: Head and Neck Neoplasms
11 0.667 0.560 10 121520160 missense variant G/C snv 0.700 1.000 1 2013 2013
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.667 0.560 10 121520160 missense variant G/C snv 0.760 1.000 6 1998 2014
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.667 0.560 10 121520160 missense variant G/C snv 0.040 1.000 4 1999 2014
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1 2014 2014
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2014 2014