rs1554927408, FGFR2

N. diseases: 12
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.
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.742 0.480 10 121515254 missense variant C/T snv 0.800 1.000 16 1994 2007
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.742 0.480 10 121515254 missense variant C/T snv 0.010 1.000 1 2017 2017
Antley-Bixler Syndrome, Autosomal Dominant
13 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
10 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
Cutis Gyrata Syndrome of Beare And Stevenson
16 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
Lacrimoauriculodentodigital syndrome
33 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
9 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0