rs121913478, FGFR2

N. diseases: 13
Source: CLINVAR ×
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
13 0.708 0.640 10 121515280 missense variant T/C snv 0.810 1.000 0 1996 2007
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
30 0.708 0.640 10 121515280 missense variant T/C snv 0.800 1.000 0 1995 2007
Endometrial Neoplasms
CUI: C0014170
Disease: Endometrial Neoplasms
13 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
10 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
14 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
34 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
28 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
15 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
32 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
29 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
47 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0