Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913483
rs121913483
FGFR3
23 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.740 1.000 1 1999 2005
dbSNP: rs78311289
rs78311289
FGFR3
11 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.710 1.000 2 1999 2001
dbSNP: rs1057519824
rs1057519824
MET
2 0.807 0.120 7 116783374 missense variant T/G snv 0.700 1.000 1 2002 2002
dbSNP: rs1057520030
rs1057520030
MET
1 7 116777427 missense variant A/G;T snv 0.700 1.000 1 2002 2002
dbSNP: rs121913245
rs121913245
MET
3 0.925 0.120 7 116783420 missense variant T/C snv 0.700 1.000 1 1998 1998
dbSNP: rs121913246
rs121913246
MET
5 0.827 0.200 7 116783360 missense variant A/G snv 0.700 1.000 1 1998 1998
dbSNP: rs121913480
rs121913480
FGFR3
2 1.000 0.120 4 1806604 missense variant G/T snv 0.700 1.000 1 2005 2005
dbSNP: rs121913482
rs121913482
FGFR3
35 0.630 0.680 4 1801837 missense variant C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs121913484
rs121913484
FGFR3
5 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2002 2002
dbSNP: rs121913485
rs121913485
FGFR3
9 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 1 2001 2001
dbSNP: rs121913671
rs121913671
MET
3 0.882 0.160 7 116783353 missense variant G/A;C snv 0.700 1.000 1 1998 1998
dbSNP: rs28931615
rs28931615
FGFR3
3 0.732 0.240 4 1804426 missense variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs56391007
rs56391007
MET
2 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.700 1.000 1 1975 1975
dbSNP: rs587779383
rs587779383
FGFR3
2 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.700 1.000 1 1998 1998
dbSNP: rs786202724
rs786202724
MET
5 0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 0.700 1.000 1 1999 1999