Source: UNIPROT

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: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.850 1.000 1 1999 2018
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.840 1.000 6 1995 2016
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.800 1.000 6 1994 2002
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.700 1.000 1 2005 2005