Gene: MED13L ×
Source: CLINVAR ×
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: rs1135401765
rs1135401765
MED13L
2 1.000 12 115982386 stop gained G/A snv 0.700 0
dbSNP: rs1135401766
rs1135401766
MED13L
2 1.000 12 116005938 frameshift variant -/A delins 0.700 0
dbSNP: rs1555243059
rs1555243059
MED13L
2 1.000 12 115982406 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555243582
rs1555243582
MED13L
2 1.000 12 115984259 frameshift variant A/- delins 0.700 0