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: rs867114783
rs867114783
17 7675109 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 1998 2007
dbSNP: rs587782490
rs587782490
17 7676030 frameshift variant GCCCAGACGGAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 1998 2014
dbSNP: rs587780068
rs587780068
17 7675140 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 2003 2017
dbSNP: rs730882006
rs730882006
17 7674235 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 2002 2010
dbSNP: rs780442292
rs780442292
17 7675211 missense variant A/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 3 2001 2008
dbSNP: rs1131691037
rs1131691037
17 7675220 missense variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2008 2012
dbSNP: rs1555526004
rs1555526004
17 7675079 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 1997 1999
dbSNP: rs587781564
rs587781564
17 7673772 protein altering variant CGCCGGTCTCT/TG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 1998 2012
dbSNP: rs587782160
rs587782160
17 7675221 missense variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2008 2013
dbSNP: rs876658144
rs876658144
17 7674866 inframe deletion TCATAGGGC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2000 2010
dbSNP: rs876659260
rs876659260
17 7674227 inframe deletion GCCGCCCATGCAGGAACTGTT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2002 2012
dbSNP: rs876660726
rs876660726
17 7673718 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2000 2017
dbSNP: rs1000256867
rs1000256867
17 7673550 missense variant T/A;G snv 4.0E-06
High-Grade Squamous Intraepithelial Lesions
0.010 1.000 1 2020 2020
dbSNP: rs1057519976
rs1057519976
17 7675207 missense variant G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs1057519980
rs1057519980
1.000 17 7675084 missense variant G/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2013 2013
dbSNP: rs1060501195
rs1060501195
17 7676056 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2004 2004
dbSNP: rs1060501206
rs1060501206
17 7675056 missense variant C/T snv 8.0E-06
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
0.010 1.000 1 2019 2019
dbSNP: rs1131691041
rs1131691041
17 7676271 frameshift variant -/A delins
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 1.000 1 2017 2017
dbSNP: rs1131691041
rs1131691041
17 7676271 frameshift variant -/A delins
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.010 1.000 1 2017 2017
dbSNP: rs1305324490
rs1305324490
17 7673738 missense variant C/G snv 4.0E-06
High-Grade Squamous Intraepithelial Lesions
0.010 1.000 1 2020 2020
dbSNP: rs1460793472
rs1460793472
17 7676187 missense variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs1555525156
rs1555525156
17 7673756 frameshift variant -/CTTCTCTTCCTCTGTGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2003 2003
dbSNP: rs1555525539
rs1555525539
17 7674249 frameshift variant CA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2002 2002
dbSNP: rs1555526082
rs1555526082
17 7675100 frameshift variant CGTC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2009 2009
dbSNP: rs1555526711
rs1555526711
17 7676171 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2002 2002