rs374608214, FGFR2

N. diseases: 13
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.
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
11 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.040 1.000 4 2004 2017
Congenital abnormal Synostosis
CUI: C0039093
Disease: Congenital abnormal Synostosis
7 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.030 1.000 3 2001 2012
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
16 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
Epithelial hyperplasia of skin
CUI: C0263641
Disease: Epithelial hyperplasia of skin
4 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
13 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
Scaphycephaly
CUI: C0265534
Disease: Scaphycephaly
8 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010