Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1114167663
rs1114167663
10 87952256 frameshift variant -/G delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2000 2000
dbSNP: rs1114167670
rs1114167670
10 87894085 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2007 2007
dbSNP: rs1114167672
rs1114167672
10 87894083 stop gained C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2014 2014
dbSNP: rs12242772
rs12242772
10 87944637 intron variant A/G snv 3.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs12242772
rs12242772
10 87944637 intron variant A/G snv 3.0E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs12242772
rs12242772
10 87944637 intron variant A/G snv 3.0E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs1234214
rs1234214
10 87938433 intron variant C/A snv 0.34
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs139767111
rs139767111
10 87933114 missense variant G/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2000 2000
dbSNP: rs1554825249
rs1554825249
10 87958000 frameshift variant GA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 1997 1997
dbSNP: rs1554898097
rs1554898097
10 87933092 stop gained G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2011 2011
dbSNP: rs1554900515
rs1554900515
10 87952122 missense variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 1999 1999
dbSNP: rs3831732
rs3831732
10 87895485 intron variant -/A;AA delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs3831732
rs3831732
10 87895485 intron variant -/A;AA delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs398123322
rs398123322
10 87933139 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2011 2011
dbSNP: rs59085061
rs59085061
10 87921701 intron variant A/G snv 5.2E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs741804
rs741804
10 87896399 intron variant A/C snv 3.6E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2018 2018
dbSNP: rs77413490
rs77413490
10 87921931 intron variant G/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs786202529
rs786202529
10 87957923 frameshift variant -/G delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2005 2005
dbSNP: rs886041332
rs886041332
10 87960962 frameshift variant A/- del
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2011 2011
dbSNP: rs1114167627
rs1114167627
10 87933192 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1114167634
rs1114167634
10 87960903 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1114167635
rs1114167635
10 87952137 frameshift variant AGAG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1114167636
rs1114167636
10 87894054 frameshift variant TT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1114167637
rs1114167637
10 87933019 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1114167638
rs1114167638
10 87961083 frameshift variant -/CA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0