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: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.900 0.981 50 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 5 1994 2012
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 5 1998 2020
dbSNP: rs1211533350
rs1211533350
FGFR3
0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.030 1.000 3 1998 2004
dbSNP: rs121913479
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 1999 1999
dbSNP: rs12822
rs12822
BRD2
1.000 0.080 6 32977925 stop gained G/A;T snv 1.5E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2007 2007
dbSNP: rs1397150560
rs1397150560
BRD2
1.000 0.080 6 32978186 missense variant A/G snv 4.1E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2001 2001
dbSNP: rs144478519
rs144478519
IL36RN
0.925 0.120 2 113062547 stop gained C/A;T snv 4.0E-06; 2.9E-03
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2013 2013
dbSNP: rs267608572
rs267608572
MECP2
1.000 0.080 X 154030690 missense variant C/T snv 3.5E-04 2.2E-04
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2016 2016
dbSNP: rs28931615
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2001 2001
dbSNP: rs587781858
rs587781858
TP53
0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2001 2001
dbSNP: rs751731391
rs751731391
FGFR2
1.000 0.080 10 121500901 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2004 2004
dbSNP: rs756254503
rs756254503
SPARC
0.925 0.120 5 151669740 missense variant G/C snv 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 1999 1999
dbSNP: rs770873375
rs770873375
GRB10
0.925 0.080 7 50612776 missense variant T/C snv 2.4E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2016 2016
dbSNP: rs776165919
rs776165919
UTRN
1.000 0.080 6 144437643 missense variant G/A snv 8.8E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 1.000 1 2016 2016