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: rs121913116
rs121913116
FGFR3
0.763 0.360 4 1799395 missense variant C/T snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.700 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116
FGFR3
0.763 0.360 4 1799395 missense variant C/T snv
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.700 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116
FGFR3
0.763 0.360 4 1799395 missense variant C/T snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116
FGFR3
0.763 0.360 4 1799395 missense variant C/T snv
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.700 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116
FGFR3
0.763 0.360 4 1799395 missense variant C/T snv
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116
FGFR3
0.763 0.360 4 1799395 missense variant C/T snv
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.700 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116
FGFR3
0.763 0.360 4 1799395 missense variant C/T snv
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116
FGFR3
0.763 0.360 4 1799395 missense variant C/T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116
FGFR3
0.763 0.360 4 1799395 missense variant C/T snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.700 1.000 1 2006 2006