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: 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: rs786201995
rs786201995 		1.000 0.120 10 87864539 missense variant G/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 6 1999 2013
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: 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: 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: 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: rs587776671
rs587776671 		0.790 0.160 10 87864506 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 1.000 1 2000 2000
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: rs1057524874
rs1057524874 		1.000 0.200 10 87864510 frameshift variant -/GA delins
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders 0.700 0
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: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1085308047
rs1085308047 		0.827 0.160 10 87864509 missense variant A/G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1085308047
rs1085308047 		0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1085308047
rs1085308047 		0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0