Source: ALL

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: rs1211533350
rs1211533350
FGFR3
0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.010 1.000 1 2009 2009
dbSNP: rs1211533350
rs1211533350
FGFR3
0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.010 1.000 1 2009 2009
dbSNP: rs1211533350
rs1211533350
FGFR3
0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 1998 1998
dbSNP: rs121913101
rs121913101
FGFR3
0.882 0.080 4 1807260 stop lost T/A;C;G snv
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		0.010 1.000 1 2017 2017
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.010 1.000 1 2015 2015
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 1999 1999
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.010 1.000 1 2016 2016
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0024215
Disease: Lymphangiectasis, Intestinal
Lymphangiectasis, Intestinal 		0.010 1.000 1 2016 2016
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 1.000 1 2017 2017
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 1.000 1 1999 1999
dbSNP: rs121913113
rs121913113
FGFR3
0.882 0.240 4 1806076 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs121913479
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs121913479
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 1999 1999
dbSNP: rs121913479
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.010 1.000 1 1998 1998
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.010 1.000 1 2011 2011
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.010 1.000 1 2007 2007
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.010 < 0.001 1 2011 2011
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0362030
Disease: Verrucous epidermal nevus
Verrucous epidermal nevus 		0.010 1.000 1 2007 2007
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0263641
Disease: Epithelial hyperplasia of skin
Epithelial hyperplasia of skin 		0.010 1.000 1 2003 2003
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		0.010 1.000 1 2011 2011