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: rs1419539530
rs1419539530
DSCAM
1 1.000 0.080 21 40189232 missense variant G/A snv 9.5E-06 7.0E-06 0.700 0
dbSNP: rs200894751
rs200894751
ECE1
1 1.000 0.080 1 21225411 missense variant G/A snv 2.5E-04 1.7E-04 0.700 0
dbSNP: rs765763704
rs765763704
ECE1
1 1.000 0.080 1 21247317 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs901425551
rs901425551
EDN1
1 1.000 0.080 6 12294313 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs372958987
rs372958987
EDN3
1 1.000 0.080 20 59324430 missense variant C/A;G;T snv 2.0E-05; 3.6E-05 0.010 1.000 1 1998 1998
dbSNP: rs868107957
rs868107957
EDN3
1 1.000 0.080 20 59301574 missense variant G/A snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs142569954
rs142569954
EDNRB
3 0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05 0.020 1.000 2 2003 2007
dbSNP: rs780355308
rs780355308
EDNRB
1 1.000 0.080 13 77918263 missense variant T/A;C snv 2.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs5349
rs5349
EDNRB ; EDNRB-AS1
3 0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02 0.020 1.000 2 2003 2007
dbSNP: rs104894387
rs104894387
EDNRB ; EDNRB-AS1
3 0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05 0.010 1.000 1 1994 1994
dbSNP: rs104894389
rs104894389
EDNRB ; EDNRB-AS1
2 0.925 0.080 13 77901185 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs112618428
rs112618428
EDNRB ; EDNRB-AS1
1 1.000 0.080 13 77903255 synonymous variant G/A snv 8.0E-06 5.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs5348
rs5348
EDNRB ; EDNRB-AS1
1 1.000 0.080 13 77903539 synonymous variant A/G;T snv 1.00 0.010 1.000 1 2007 2007
dbSNP: rs5351
rs5351
EDNRB ; EDNRB-AS1
7 0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57 0.010 1.000 1 2007 2007
dbSNP: rs5352
rs5352
EDNRB ; EDNRB-AS1
5 0.827 0.200 13 77901095 missense variant C/T snv 1.0E-02 1.1E-02 0.010 1.000 1 1999 1999
dbSNP: rs17059206
rs17059206
FZD3
1 1.000 0.080 8 28554946 intron variant A/T snv 1.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs36119840
rs36119840
GDNF ; GDNF-AS1
6 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.010 1.000 1 1997 1997
dbSNP: rs11197571
rs11197571
GFRA1
1 1.000 0.080 10 116183122 intron variant A/G snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs895453885
rs895453885
GFRA4
1 1.000 0.080 20 3660897 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs146535482
rs146535482
HHIP ; HHIP-AS1
2 1.000 0.080 4 144658851 missense variant G/C snv 1.1E-03 3.9E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs200798148
rs200798148
HHIP ; HHIP-AS1
2 1.000 0.080 4 144659723 missense variant C/T snv 8.5E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs61730970
rs61730970
HHIP ; HHIP-AS1
2 1.000 0.080 4 144659714 missense variant G/A snv 5.4E-03 2.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2014 2014
dbSNP: rs77743549
rs77743549
INMT ; INMT-MINDY4
1 1.000 0.080 7 30752287 missense variant A/C snv 7.6E-03 6.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs671600
rs671600
KIR2DL1 ; KIR2DS1 ; KIR2DS4 ; KIR3DL1
1 1.000 0.080 19 54845969 intron variant T/C snv 0.67 0.700 1.000 1 2009 2009