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: rs1554825652
rs1554825652
PTEN
1.000 0.080 10 87961113 missense variant T/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs398123314
rs398123314
PTEN
1.000 0.080 10 87961118 missense variant G/A;C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs1554898088
rs1554898088
PTEN
1.000 10 87933066 frameshift variant CC/-;C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs1554898088
rs1554898088
PTEN
1.000 10 87933066 frameshift variant CC/-;C delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 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: rs1554900534
rs1554900534
PTEN
1.000 0.080 10 87952133 missense variant A/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 11 1997 2013
dbSNP: rs1057519724
rs1057519724
PTEN
1.000 0.080 10 87933236 missense variant G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 10 2004 2012
dbSNP: rs121913289
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 10 2004 2012
dbSNP: rs786204900
rs786204900
PTEN
1.000 0.080 10 87933246 frameshift variant AA/-;A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2002 2017
dbSNP: rs786201816
rs786201816
PTEN
1.000 0.080 10 87961100 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 8 1999 2015
dbSNP: rs1554897280
rs1554897280
PTEN
1.000 0.080 10 87925558 splice donor variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1999 2015
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
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 		0.700 1.000 6 2003 2011
dbSNP: rs786201995
rs786201995
PTEN ; KLLN
1.000 0.120 10 87864539 missense variant G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1999 2013
dbSNP: rs1064793243
rs1064793243
PTEN
1.000 0.080 10 87933082 missense variant T/C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 5 2007 2017
dbSNP: rs1064794096
rs1064794096
PTEN ; KLLN
1.000 0.040 10 87864514 missense variant A/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2007 2015
dbSNP: rs121913289
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2007 2017
dbSNP: rs1564566706
rs1564566706
PTEN
1.000 0.080 10 87957851 splice acceptor variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 5 1998 2017
dbSNP: rs786204900
rs786204900
PTEN
1.000 0.080 10 87933246 frameshift variant AA/-;A delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 5 2002 2014
dbSNP: rs876660535
rs876660535
PTEN
1.000 0.080 10 87933130 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2003 2010
dbSNP: rs1057519724
rs1057519724
PTEN
1.000 0.080 10 87933236 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 4 1999 2010
dbSNP: rs1060500110
rs1060500110
PTEN
1.000 0.080 10 87958019 splice donor variant G/- delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 4 1998 2011
dbSNP: rs1114167629
rs1114167629
PTEN
1.000 0.080 10 87933087 stop gained C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1997 2006