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: rs587782341
rs587782341
1.000 0.080 10 87957958 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 3 2004 2012
dbSNP: rs1114167632
rs1114167632
1.000 0.080 10 87952136 frameshift variant -/A delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 1.000 2 2007 2016
dbSNP: rs398123323
rs398123323
1.000 0.200 10 87933163 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2011 2011
dbSNP: rs587782341
rs587782341
1.000 0.080 10 87957958 frameshift variant -/A delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 1.000 2 2004 2013
dbSNP: rs1114167661
rs1114167661
10 87957974 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2011 2011
dbSNP: rs1554898084
rs1554898084
1.000 0.080 10 87933059 frameshift variant -/A delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 1.000 1 2014 2014
dbSNP: rs1554898084
rs1554898084
1.000 0.080 10 87933059 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2014 2014
dbSNP: rs797045066
rs797045066
1.000 0.200 10 87965303 frameshift variant -/A delins
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.700 1.000 1 2016 2016
dbSNP: rs1085308050
rs1085308050
0.827 0.160 10 87933178 frameshift variant -/A delins
Attention deficit hyperactivity disorder
0.700 0
dbSNP: rs1085308050
rs1085308050
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
0.700 0
dbSNP: rs1085308050
rs1085308050
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1085308050
rs1085308050
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C0024221
Disease: Lymphangioma
Lymphangioma
0.700 0
dbSNP: rs1085308050
rs1085308050
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.700 0
dbSNP: rs1085308050
rs1085308050
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C4531112
Disease: Penile freckling
Penile freckling
0.700 0
dbSNP: rs1085308050
rs1085308050
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 0
dbSNP: rs1114167632
rs1114167632
1.000 0.080 10 87952136 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1554825615
rs1554825615
1.000 0.080 10 87961085 frameshift variant -/A delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 0
dbSNP: rs398123323
rs398123323
1.000 0.200 10 87933163 frameshift variant -/A delins
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.700 0
dbSNP: rs786204892
rs786204892
1.000 0.080 10 87961046 frameshift variant -/A delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 0
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: rs1114167677
rs1114167677
10 87931053 frameshift variant -/AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1554898073
rs1554898073
10 87933043 frameshift variant -/AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs1554898085
rs1554898085
0.790 0.160 10 87933061 frameshift variant -/AAACC delins
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
0.700 0
dbSNP: rs1554898085
rs1554898085
0.790 0.160 10 87933061 frameshift variant -/AAACC delins
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
0.700 0