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: rs1554401434
rs1554401434
AUTS2
1 1.000 7 69899331 frameshift variant -/GCCCC delins 0.700 0
dbSNP: rs1554480537
rs1554480537
AUTS2
1 1.000 7 70763073 stop gained C/T snv 0.700 0
dbSNP: rs1563183469
rs1563183469
AUTS2
3 0.925 0.120 7 70766245 missense variant A/C snv 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs1565819425
rs1565819425
KMT2D
1 1.000 12 49051913 frameshift variant -/A delins 0.700 0
dbSNP: rs767529359
rs767529359
AUTS2
1 1.000 7 70764832 missense variant C/A;T snv 2.1E-04 0.700 0
dbSNP: rs864321694
rs864321694
AUTS2
1 1.000 7 70762983 frameshift variant AA/- delins 0.700 0
dbSNP: rs869312878
rs869312878
AUTS2
3 0.882 0.160 7 70766130 frameshift variant -/C delins 0.700 0