rs121913478, FGFR2

N. diseases: 17
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
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
16 0.708 0.640 10 121515280 missense variant T/C snv 0.810 1.000 3 1996 2007
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.708 0.640 10 121515280 missense variant T/C snv 0.800 1.000 13 1995 2007
Endometrial Neoplasms
CUI: C0014170
Disease: Endometrial Neoplasms
32 0.708 0.640 10 121515280 missense variant T/C snv 0.700 1.000 2 2011 2014
Antley-Bixler Syndrome, Autosomal Dominant
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
13 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
10 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
33 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
33 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
9 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.708 0.640 10 121515280 missense variant T/C snv 0.010 1 2006 2006
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
12 0.708 0.640 10 121515280 missense variant T/C snv 0.010 1.000 1 1998 1998
Thanatophoric dysplasia, type 1
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
4 0.708 0.640 10 121515280 missense variant T/C snv 0.010 1.000 1 1998 1998
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.708 0.640 10 121515280 missense variant T/C snv 0.010 1.000 1 1998 1998