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: rs121908403
rs121908403
SPINT2
5 0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04 0.820 1.000 3 2009 2018
dbSNP: rs766076524
rs766076524
SLC9A3
1 1.000 0.120 5 483270 missense variant C/T snv 1.2E-05 7.0E-06 0.800 1.000 1 2015 2015
dbSNP: rs869312806
rs869312806
SLC9A3
1 1.000 0.120 5 484520 missense variant G/A snv 0.800 0
dbSNP: rs869312807
rs869312807
SLC9A3
1 1.000 0.120 5 484647 missense variant C/T snv 7.0E-06 0.800 0
dbSNP: rs1047334552
rs1047334552
SLC9A3
1 1.000 0.120 5 491904 missense variant C/T snv 0.700 0
dbSNP: rs112576957
rs112576957
SPINT2
1 1.000 0.120 19 38290282 splice donor variant T/A;C snv 0.700 0
dbSNP: rs121908404
rs121908404
SPINT2
1 1.000 0.120 19 38264893 start lost A/T snv 0.700 0
dbSNP: rs144524702
rs144524702
SLC9A3
1 1.000 0.120 5 484519 splice donor variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs606231154
rs606231154
SPINT2
1 1.000 0.120 19 38291839 splice acceptor variant G/A snv 0.700 0
dbSNP: rs606231155
rs606231155
SPINT2
1 1.000 0.120 19 38287937 splice donor variant T/C snv 8.0E-06 0.700 0
dbSNP: rs606231284
rs606231284
SPINT2
1 1.000 0.120 19 38290229 missense variant G/A snv 0.700 0
dbSNP: rs766583286
rs766583286
SLC9A3
1 1.000 0.120 5 483376 missense variant C/T snv 1.1E-05 7.0E-06 0.700 0
dbSNP: rs776026092
rs776026092
SLC9A3
1 1.000 0.120 5 491931 inframe deletion AGA/- delins 1.4E-05 0.700 0
dbSNP: rs869320692
rs869320692
SLC9A3 ; SLC9A3-AS1
1 1.000 0.120 5 477347 frameshift variant G/- del 0.700 0
dbSNP: rs869320759
rs869320759
SLC9A3
1 1.000 0.120 5 484669 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs1353175955
rs1353175955
SPINT2
2 0.925 0.200 19 38290170 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs762140462
rs762140462
HGF
1 1.000 0.120 7 81752245 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014