Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064796078
rs1064796078 		10 87864515 missense variant T/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1114167625
rs1114167625 		10 87864508 inframe deletion AAG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs1114167653
rs1114167653 		10 87864541 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs786202786
rs786202786 		10 87864510 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs786204882
rs786204882 		10 87864489 frameshift variant GATCGTTAGCAGAAACA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs786204883
rs786204883 		10 87864514 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1064794096
rs1064794096 		1.000 0.040 10 87864514 missense variant A/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2007 2015
dbSNP: rs121909233
rs121909233 		1.000 0.040 10 87864524 missense variant G/A snv
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1564801388
rs1564801388 		1.000 0.040 10 87864353 5 prime UTR variant -/G delins
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1564801473
rs1564801473 		1.000 0.040 10 87864406 5 prime UTR variant -/C delins
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1064794096
rs1064794096 		1.000 0.040 10 87864514 missense variant A/C;T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 0
dbSNP: rs121909233
rs121909233 		1.000 0.040 10 87864524 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.800 0
dbSNP: rs587782187
rs587782187 		1.000 0.080 10 87864517 stop gained T/A;C;G snv 8.0E-06
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2003 2011
dbSNP: rs1554890324
rs1554890324 		1.000 0.080 10 87864470 start lost A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2011 2014
dbSNP: rs786204910
rs786204910 		1.000 0.080 10 87864518 stop gained C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2011 2015
dbSNP: rs797044910
rs797044910 		1.000 0.080 10 87864540 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2011 2014
dbSNP: rs12573787
rs12573787 		1.000 0.080 10 87863959 5 prime UTR variant G/A;C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs587781912
rs587781912 		1.000 0.080 10 87864519 frameshift variant AA/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs587781912
rs587781912 		1.000 0.080 10 87864519 frameshift variant AA/- del
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs587782187
rs587782187 		1.000 0.080 10 87864517 stop gained T/A;C;G snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs121913290
rs121913290 		1.000 0.080 10 87864485 frameshift variant AA/-;AAA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121913290
rs121913290 		1.000 0.080 10 87864485 frameshift variant AA/-;AAA delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554890348
rs1554890348 		1.000 0.080 10 87864506 stop gained A/T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554890400
rs1554890400 		1.000 0.080 10 87864536 frameshift variant T/- delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs786204910
rs786204910 		1.000 0.080 10 87864518 stop gained C/G;T snv 4.0E-06
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0