Source: CLINVAR ×
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
22 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.720 1.000 2 2007 2019
dbSNP: rs121913485
rs121913485
FGFR3
8 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 3 2009 2014
dbSNP: rs121913479
rs121913479
FGFR3
4 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 2009 2014
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913480
rs121913480
FGFR3
2 1.000 0.120 4 1806604 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913484
rs121913484
FGFR3
4 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs78311289
rs78311289
FGFR3
9 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2014 2014