rs121918491, FGFR2

N. diseases: 15
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
13 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
10 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
1 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
Lacrimoauriculodentodigital syndrome
33 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
1 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
9 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
Axenfeld anomaly (disorder)
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
3 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
Cutis Gyrata Syndrome of Beare And Stevenson
16 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 1.000 9 1994 2015