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.
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
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
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
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.710 1.000 1 2011 2011
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
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
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
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 1 2016 2016
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
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
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
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
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
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
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.050 1.000 5 2004 2017
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
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
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 2002 2013
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 2002 2013
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
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 2002 2013