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: rs104894388
rs104894388
EDNRB ; EDNRB-AS1
1 1.000 0.080 13 77903543 missense variant G/C snv 0.800 1.000 2 1995 2002
dbSNP: rs104894387
rs104894387
EDNRB ; EDNRB-AS1
3 0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05 0.700 0
dbSNP: rs104894390
rs104894390
EDNRB ; EDNRB-AS1
1 1.000 0.080 13 77903200 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs104894391
rs104894391
EDNRB ; EDNRB-AS1
2 0.925 0.080 13 77903356 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1458799604
rs1458799604
EDNRB ; EDNRB-AS1
1 1.000 0.080 13 77903570 frameshift variant C/- del 4.0E-06 0.700 0
dbSNP: rs1555290659
rs1555290659
EDNRB ; EDNRB-AS1
1 1.000 0.080 13 77903541 missense variant A/G snv 0.700 0
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
dbSNP: rs1569169328
rs1569169328
POLR2F ; SOX10
3 0.925 0.200 22 37978136 splice acceptor variant C/T snv 0.700 0
dbSNP: rs768126403
rs768126403
EDNRB
4 1.000 0.080 13 77918517 stop gained G/A;T snv 0.700 0
dbSNP: rs74315521
rs74315521
POLR2F ; SOX10
3 0.882 0.120 22 37974148 stop gained G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
10 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.010 1.000 1 2017 2017