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: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.820 1.000 8 1995 2008
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 1.000 4 1996 2017
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.700 1.000 3 2009 2014
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.700 1.000 3 2009 2013
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		0.700 1.000 1 2016 2016
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.700 1.000 1 2005 2005
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.700 1.000 1 2001 2001
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.700 0
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.040 0.750 4 2001 2011
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 2002 2002
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		0.010 1.000 1 1998 1998
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.010 1.000 1 1998 1998
dbSNP: rs121913485
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.010 1.000 1 2008 2008