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: rs74315515
rs74315515
POLR2F ; SOX10
2 0.925 0.240 22 37983381 missense variant C/G;T snv 0.700 1.000 3 1999 2011
dbSNP: rs750566714
rs750566714
POLR2F ; SOX10
1 1.000 0.040 22 37978082 missense variant C/T snv 7.0E-06 0.700 1.000 3 1999 2011
dbSNP: rs1057518656
rs1057518656
POLR2F ; SOX10
1 1.000 0.040 22 37983469 missense variant G/C snv 0.700 0
dbSNP: rs1569167607
rs1569167607
POLR2F ; SOX10
3 1.000 0.040 22 37973727 stop gained G/C snv 0.700 0
dbSNP: rs1569169289
rs1569169289
POLR2F ; SOX10
1 1.000 0.040 22 37978077 stop gained G/A snv 0.700 0