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: rs267607081
rs267607081
POLR2F ; SOX10
1 1.000 0.120 22 37978043 missense variant T/G snv 0.700 1.000 4 2000 2011
dbSNP: rs397515368
rs397515368
POLR2F ; SOX10
1 1.000 0.120 22 37973485 stop lost CCCTTTAGGGCC/- delins 0.700 0
dbSNP: rs397515371
rs397515371
POLR2F ; SOX10
1 1.000 0.120 22 37974099 frameshift variant C/- delins 0.700 0
dbSNP: rs397515372
rs397515372
POLR2F ; SOX10
1 1.000 0.120 22 37973981 frameshift variant C/- delins 0.700 0
dbSNP: rs74315516
rs74315516
POLR2F ; SOX10
1 1.000 0.120 22 37973957 stop gained G/C;T snv 0.700 0
dbSNP: rs74315518
rs74315518
POLR2F ; SOX10
1 1.000 0.120 22 37974144 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs74315521
rs74315521
POLR2F ; SOX10
3 0.882 0.120 22 37974148 stop gained G/A snv 0.700 0