Gene: MED13L ×
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: rs1555240361
rs1555240361
MED13L
2 1.000 12 115966138 stop gained G/A snv 0.700 1.000 16 1971 2018
dbSNP: rs1555240376
rs1555240376
MED13L
2 1.000 12 115966189 missense variant G/T snv 0.700 1.000 16 1971 2018
dbSNP: rs1555243099
rs1555243099
MED13L
2 1.000 12 115982526 missense variant A/T snv 0.700 1.000 16 1971 2018
dbSNP: rs1555244216
rs1555244216
MED13L
2 1.000 12 115987290 splice acceptor variant T/C snv 0.700 1.000 16 1971 2018
dbSNP: rs1555247469
rs1555247469
MED13L
2 1.000 12 116006413 splice acceptor variant T/C snv 0.700 1.000 16 1971 2018
dbSNP: rs1555247853
rs1555247853
MED13L
2 1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins 0.700 1.000 16 1971 2018
dbSNP: rs1555248020
rs1555248020
MED13L
3 1.000 12 116009052 stop gained G/C snv 0.700 1.000 16 1971 2018