Source: ALL
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: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 0.833 6 1998 2011
dbSNP: rs768918396
rs768918396
FGFR1
1 1.000 0.080 8 38419732 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs756016701
rs756016701
FGFR1
3 0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 0.020 1.000 2 2000 2002
dbSNP: rs1350033384
rs1350033384
SGSM3
1 1.000 0.080 22 40409697 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs373496046
rs373496046
FGFR3
1 1.000 0.080 4 1803761 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs765241522
rs765241522
FGFR2
1 1.000 0.080 10 121503799 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs777169135
rs777169135
FGFR2
4 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs761012674
rs761012674
FGFR2
1 1.000 0.080 10 121503884 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1224606327
rs1224606327
FGFR2
1 1.000 0.080 10 121485399 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs776587763
rs776587763
FGFR2
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2017 2017
dbSNP: rs121918491
rs121918491
FGFR2
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs374608214
rs374608214
FGFR2
13 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs28931615
rs28931615
FGFR3
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.700 1.000 7 1995 2013
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.710 0.833 6 1999 2016
dbSNP: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 1.000 5 1996 2015
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 4 1996 2017
dbSNP: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C snv 0.040 1.000 4 1999 2014
dbSNP: rs121913113
rs121913113
FGFR3
3 0.882 0.240 4 1806076 missense variant G/A snv 0.700 1.000 2 2006 2016
dbSNP: rs10208293
rs10208293
IL18R1 ; IL1RL1
4 0.882 0.160 2 102349850 intron variant G/A snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs104893895
rs104893895
MSX2
3 0.882 0.160 5 174729222 missense variant C/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs1057520044
rs1057520044
FGFR2
1 1.000 0.080 10 121498597 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs12188164
rs12188164
AHRR
1 1.000 0.080 5 428121 intron variant C/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs121908671
rs121908671
LRP5
4 0.851 0.120 11 68357801 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918487
rs121918487
FGFR2
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.710 1.000 1 2017 2017
dbSNP: rs121918488
rs121918488
FGFR2
7 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.010 1.000 1 1999 1999