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: rs28933068
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 0.962 1 1996 2020
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.780 1.000 0 1995 2020
dbSNP: rs80053154
rs80053154
FGFR3
0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.730 1.000 0 1998 2017
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.720 1.000 0 2008 2018
dbSNP: rs121913115
rs121913115
FGFR3
1.000 0.120 4 1801928 missense variant A/G snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.710 1.000 0 2013 2013
dbSNP: rs77722678
rs77722678
FGFR3
1.000 0.120 4 1805643 missense variant A/C;G snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.710 1.000 0 2000 2000
dbSNP: rs78311289
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.710 1.000 0 2011 2011
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: rs121913114
rs121913114
FGFR3
0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		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: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs28928868
rs28928868
FGFR3
0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		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: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs587778769
rs587778769
FGFR3
1.000 0.120 4 1799488 missense variant A/T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs587778773
rs587778773
FGFR3
1.000 0.120 4 1801886 missense variant C/T snv 4.1E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs587778775
rs587778775
FGFR3
1.000 0.120 4 1803785 missense variant G/A;T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs587778776
rs587778776
FGFR3
1.000 0.120 4 1804396 missense variant T/A;G snv 1.2E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs587778801
rs587778801
FGFR3
1.000 0.120 4 1801518 synonymous variant C/T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs587778811
rs587778811
FGFR3
1.000 0.120 4 1801896 synonymous variant G/T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs587778816
rs587778816
FGFR3
1.000 0.120 4 1803731 missense variant C/A;G snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0
dbSNP: rs587778817
rs587778817
FGFR3
1.000 0.120 4 1803744 missense variant A/G;T snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0