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: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
8 0.827 0.280 13 77900593 missense variant G/A snv 0.700 0
dbSNP: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
10 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
dbSNP: rs10206961
rs10206961
VAMP5
2 0.925 0.080 2 85587861 intron variant C/T snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs1254900
rs1254900
VAMP5
4 0.851 0.120 2 85589211 intron variant A/G snv 0.81 0.010 1.000 1 2016 2016
dbSNP: rs13223150
rs13223150
TSGA13
2 0.925 0.080 7 130684771 intron variant A/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs16879552
rs16879552
NRG1
3 0.882 0.080 8 32553698 intron variant C/T snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs6509940
rs6509940 		2 0.925 0.080 19 55372511 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs77316810
rs77316810
RET
10 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs77702891
rs77702891
RET
2 0.925 0.080 10 43106446 missense variant G/A;T snv 1.2E-04 0.010 1.000 1 1997 1997
dbSNP: rs7835688
rs7835688
NRG1
2 0.925 0.080 8 32553981 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs9282834
rs9282834
RET
3 0.882 0.080 10 43111408 missense variant G/A snv 2.3E-03 6.6E-04 0.010 1.000 1 2013 2013