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: rs886043613
rs886043613
FGFR3
4 0.925 0.080 4 1801519 missense variant C/T snv 0.700 0
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: 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: rs886043448
rs886043448
DNAH5
4 0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1997 1997
dbSNP: rs2282851
rs2282851
TAPBP
1 1.000 0.080 6 33312532 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs6907229
rs6907229
KCNQ5
1 1.000 0.080 6 73174426 intron variant C/T snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs766812325
rs766812325
RUNX2
3 0.882 0.080 6 45492058 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs10246939
rs10246939
TAS2R38 ; MGAM
6 0.851 0.240 7 141972804 missense variant T/C snv 0.49 0.47 0.010 1.000 1 2014 2014
dbSNP: rs1621
rs1621
MET
2 0.925 0.160 7 116797552 3 prime UTR variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000
dbSNP: rs28933372
rs28933372
GLI3
5 0.827 0.120 7 41966273 missense variant C/G snv 0.010 1.000 1 2013 2013
dbSNP: rs37973
rs37973
GLCCI1 ; GLCCI1-DT
7 0.807 0.280 7 7968245 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs38850
rs38850
MET
1 1.000 0.080 7 116697595 intron variant G/A snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs42336
rs42336 		1 1.000 0.080 7 116801535 downstream gene variant A/G snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs4504543
rs4504543
AOAH
1 1.000 0.080 7 36643290 intron variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs1554442015
rs1554442015
TWIST1
5 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0
dbSNP: rs981703846
rs981703846
FGFR1
3 0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06 0.030 1.000 3 2000 2011
dbSNP: rs121909627
rs121909627
FGFR1
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.020 1.000 2 1997 2000
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: 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: rs786200952
rs786200952
KAT6A
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs1057518791
rs1057518791
TRPS1
7 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
dbSNP: rs1057518817
rs1057518817
NPR2
4 1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 0.700 0