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: rs1293450628
rs1293450628
MED23
1 1.000 6 131618517 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs370667926
rs370667926
MED23
2 1.000 6 131603129 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs527236035
rs527236035
MED23
1 1.000 6 131591361 missense variant T/C snv 0.700 0
dbSNP: rs527236036
rs527236036
MED23
1 1.000 6 131587798 stop gained G/A snv 0.700 0
dbSNP: rs760262127
rs760262127
MED23
1 1.000 6 131598611 frameshift variant AAGA/- delins 4.0E-06 0.700 0