Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.810 1.000 2 1996 2007
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.800 1.000 13 1995 2007
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.700 1.000 2 2011 2014
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.700 0