Source: BEFREE ×
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: rs74315521
rs74315521
POLR2F ; SOX10
2 0.882 0.120 22 37974148 stop gained G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
2 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.010 1.000 1 2017 2017