Source: BEFREE

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 1 1996 2007
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.010 1.000 1 1998 1998
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		0.010 1.000 1 1998 1998
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.010 1.000 1 1998 1998
dbSNP: rs121913478
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 < 0.001 1 2006 2006