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: rs80359845
rs80359845
ESCO2
1 1.000 0.080 8 27776600 frameshift variant GAGA/- delins 0.700 1.000 1 2008 2008
dbSNP: rs146312522
rs146312522
ESCO2
1 1.000 0.080 8 27788890 missense variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1554554098
rs1554554098
ESCO2
1 1.000 0.080 8 27777058 frameshift variant -/G delins 0.700 0
dbSNP: rs1554555716
rs1554555716
ESCO2
1 1.000 0.080 8 27787982 frameshift variant -/G;T ins 0.700 0
dbSNP: rs797045565
rs797045565
ESCO2
1 1.000 0.080 8 27780206 frameshift variant A/TTTTAT delins 0.700 0
dbSNP: rs797045566
rs797045566
ESCO2
1 1.000 0.080 8 27780218 frameshift variant -/A delins 7.0E-06 0.700 0
dbSNP: rs80359844
rs80359844
ESCO2
1 1.000 0.080 8 27776559 frameshift variant AT/- delins 0.700 0
dbSNP: rs80359846
rs80359846
ESCO2
1 1.000 0.080 8 27776614 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs80359847
rs80359847
ESCO2
1 1.000 0.080 8 27776614 frameshift variant AA/-;AAA delins 1.4E-05 0.700 0
dbSNP: rs80359848
rs80359848
ESCO2
1 1.000 0.080 8 27776719 frameshift variant -/A delins 0.700 0
dbSNP: rs80359849
rs80359849
ESCO2
1 1.000 0.080 8 27776813 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs80359850
rs80359850
ESCO2
1 1.000 0.080 8 27776912 stop gained C/T snv 0.700 0
dbSNP: rs80359851
rs80359851
ESCO2
1 1.000 0.080 8 27777052 frameshift variant GT/- delins 7.0E-06 0.700 0
dbSNP: rs80359852
rs80359852
ESCO2
1 1.000 0.080 8 27777060 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs80359855
rs80359855
ESCO2
1 1.000 0.080 8 27777070 frameshift variant TT/- delins 0.700 0
dbSNP: rs80359856
rs80359856
ESCO2
1 1.000 0.080 8 27780186 frameshift variant CAGA/- delins 0.700 0
dbSNP: rs80359857
rs80359857
ESCO2
1 1.000 0.080 8 27780189 frameshift variant AG/- delins 0.700 0
dbSNP: rs80359858
rs80359858
ESCO2
1 1.000 0.080 8 27780266 splice donor variant TAAG/- delins 3.5E-05 0.700 0
dbSNP: rs80359859
rs80359859
ESCO2
1 1.000 0.080 8 27787976 frameshift variant AAA/-;AAAA delins 0.700 0
dbSNP: rs80359861
rs80359861
ESCO2
1 1.000 0.080 8 27788003 splice donor variant G/A snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs80359862
rs80359862
ESCO2
1 1.000 0.080 8 27788840 splice region variant A/G;T snv 1.6E-05; 1.2E-05 0.700 0
dbSNP: rs80359863
rs80359863
ESCO2
1 1.000 0.080 8 27788979 splice donor variant G/C snv 0.700 0
dbSNP: rs80359864
rs80359864
ESCO2
1 1.000 0.080 8 27791968 stop gained G/A snv 0.700 0
dbSNP: rs80359865
rs80359865
ESCO2
1 1.000 0.080 8 27792650 intron variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs80359866
rs80359866
ESCO2
1 1.000 0.080 8 27792771 frameshift variant AG/- delins 0.700 0