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: rs121909229
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1998 2017
dbSNP: rs121909230
rs121909230
PTEN
0.925 0.080 10 87933094 missense variant T/C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
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: rs587782343
rs587782343
PTEN
0.851 0.200 10 87933073 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs587782360
rs587782360
PTEN
0.851 0.280 10 87933162 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs121909229
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 18 1998 2015
dbSNP: rs1060500126
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 2015
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 14 1997 2018
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 14 2001 2015
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 2015
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: rs786201041
rs786201041
PTEN
0.776 0.160 10 87961119 splice donor variant G/A;C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs786204929
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs876659443
rs876659443
PTEN
0.925 0.080 10 87894048 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 14 2001 2015
dbSNP: rs876659443
rs876659443
PTEN
0.925 0.080 10 87894048 missense variant A/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: 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: rs398123317
rs398123317
PTEN
0.790 0.160 10 87925550 missense variant T/A;C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 13 1998 2015
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 1997 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1999 2017
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