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: 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: rs12883884
rs12883884
SLC8A3
1 1.000 0.080 14 70050466 intron variant T/C;G snv 0.010 1.000 1 2017 2017
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: rs140598
rs140598
FBN1
5 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 1997 1997
dbSNP: rs1483757
rs1483757
NOS1
3 0.925 0.160 12 117323735 intron variant A/G;T snv 0.010 1.000 1 2011 2011
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: rs200215055
rs200215055
FCGR3B
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2160203
rs2160203
IL18R1 ; IL1RL1
2 1.000 0.080 2 102344364 3 prime UTR variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs28933372
rs28933372
GLI3
5 0.827 0.120 7 41966273 missense variant C/G snv 0.010 1.000 1 2013 2013
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: 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: rs7528947
rs7528947
RGS21
1 1.000 0.080 1 192366662 3 prime UTR variant A/C;G;T snv 0.010 < 0.001 1 2019 2019
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: 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: rs766812325
rs766812325
RUNX2
3 0.882 0.080 6 45492058 missense variant C/G snv 0.010 1.000 1 2004 2004
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: 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: rs786200952
rs786200952
KAT6A
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs9658281
rs9658281
NOS1
1 1.000 0.080 12 117329773 intron variant C/G;T snv 0.010 1.000 1 2011 2011
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
dbSNP: rs1060499549
rs1060499549
ZNF462
4 0.882 0.120 9 106927699 stop gained C/T snv 0.700 0
dbSNP: rs1060499550
rs1060499550
ZNF462
1 1.000 0.080 9 106926891 frameshift variant TG/A delins 0.700 0
dbSNP: rs1060499551
rs1060499551
ZNF462
1 1.000 0.080 9 106928174 frameshift variant A/- delins 0.700 0
dbSNP: rs121918491
rs121918491
FGFR2
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0