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: rs9651492
rs9651492
PTEN
0.882 0.160 10 87933216 missense variant G/A;C snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2007 2007
dbSNP: rs9651492
rs9651492
PTEN
0.882 0.160 10 87933216 missense variant G/A;C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2007 2007
dbSNP: rs9651492
rs9651492
PTEN
0.882 0.160 10 87933216 missense variant G/A;C snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.010 1.000 1 2007 2007
dbSNP: rs917927904
rs917927904
PTEN ; KLLN
1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs917927904
rs917927904
PTEN ; KLLN
1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 1.000 1 2007 2007
dbSNP: rs886047397
rs886047397
PTEN
1.000 0.080 10 87960892 splice acceptor variant A/- del
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 2 1998 2011
dbSNP: rs886044679
rs886044679
PTEN
1.000 0.080 10 87960917 frameshift variant A/- delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs886041877
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 14 2001 2015
dbSNP: rs886041877
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 2001 2015
dbSNP: rs886041877
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs886041877
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 14 2001 2015
dbSNP: rs886041332
rs886041332
PTEN
10 87960962 frameshift variant A/- del
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs886041332
rs886041332
PTEN
10 87960962 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs878853944
rs878853944
PTEN
1.000 0.080 10 87960969 stop gained G/T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs878853942
rs878853942
PTEN
1.000 0.080 10 87957972 frameshift variant -/AT delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs878853941
rs878853941
PTEN
1.000 0.080 10 87952168 frameshift variant -/T delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2000 2000
dbSNP: rs878853941
rs878853941
PTEN
1.000 0.080 10 87952168 frameshift variant -/T delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs878853940
rs878853940
PTEN ; KLLN
1.000 0.080 10 87864522 frameshift variant A/- del
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs878853937
rs878853937
PTEN
1.000 0.080 10 87925559 splice donor variant T/A;C snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs878853936
rs878853936
PTEN
1.000 0.080 10 87925543 stop gained C/A;G;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 2 2013 2016
dbSNP: rs878853936
rs878853936
PTEN
1.000 0.080 10 87925543 stop gained C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs878853933
rs878853933
PTEN
1.000 0.080 10 87894076 frameshift variant -/C delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs876661058
rs876661058
PTEN
1.000 0.080 10 87961037 stop gained T/A;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 9 1998 2017
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 1.000 1 2017 2017