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.
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
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
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