FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Seborrheic keratosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913482
rs121913482 		0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.800 1.000 1 2005 2005
dbSNP: rs121913483
rs121913483 		0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.800 1.000 1 2005 2005
dbSNP: rs121913105
rs121913105 		0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs121913484
rs121913484 		0.851 0.240 4 1804365 missense variant A/T snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs121913485
rs121913485 		0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs78311289
rs78311289 		0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1325547001
rs1325547001 		1.000 0.040 4 1806619 missense variant G/A snv 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs28931615
rs28931615 		0.732 0.240 4 1804426 missense variant C/A;T snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006