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: 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: rs1131691015
rs1131691015
17 7676379 splice donor variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1131691041
rs1131691041
17 7676271 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1567542146
rs1567542146
1.000 0.120 17 7670694 frameshift variant -/A ins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0
dbSNP: rs1567546818
rs1567546818
17 7673707 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1567549651
rs1567549651
1.000 0.120 17 7674248 frameshift variant -/A delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0
dbSNP: rs1567550002
rs1567550002
1.000 0.120 17 7674281 frameshift variant -/A delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0
dbSNP: rs786202514
rs786202514
17 7675096 frameshift variant -/ACCTC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs587782609
rs587782609
17 7676211 stop gained -/ATT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 0.833 42 2003 2018
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 0.833 42 2003 2018
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 0.923 39 2002 2019
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 0.909 33 2005 2019
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 0.966 29 2003 2018
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 0.750 20 2006 2018
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 0.875 16 2000 2018
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 0.875 16 2000 2018
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 0.875 16 2000 2018
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
Malignant neoplasm of colon and/or rectum
0.100 0.933 15 2006 2018
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 0.857 14 2005 2017
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.100 0.909 11 2002 2016
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0025202
Disease: melanoma
melanoma
0.100 0.900 10 2006 2017
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.100 0.900 10 2002 2016
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.100 0.900 10 2002 2016