Source: CLINVAR

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: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.900 0.981 0 1994 2020
dbSNP: rs75790268
rs75790268
FGFR3
0.925 0.120 4 1804377 missense variant G/T snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.850 1.000 0 1994 2012
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 0 1994 2002
dbSNP: rs28933068
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.750 1.000 0 1998 2020
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
dbSNP: rs121913114
rs121913114
FGFR3
0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.700 0
dbSNP: rs121913483
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.700 0
dbSNP: rs4647924
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.700 0