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: rs121909230
rs121909230
0.821 0.143 10 87933094 missense variant T/C snp
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
0.800 1 1999 1999
dbSNP: rs121909233
rs121909233
1.000 0.036 10 87864524 missense variant G/A snp
CUI: C0025202
Disease: melanoma
melanoma
0.800 1 2000 2000
dbSNP: rs121909234
rs121909234
1.000 0.036 10 87957867 missense variant G/A snp
CUI: C0025202
Disease: melanoma
melanoma
0.800 1 2000 2000
dbSNP: rs121909237
rs121909237
1.000 0.036 10 87933121 stop gained C/G snp
Squamous cell carcinoma of the head and neck
0.800 1 2002 2002
dbSNP: rs121909239
rs121909239
1.000 0.179 10 87957973 missense variant A/G snp
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.800 1 2006 2006
dbSNP: rs397514559
rs397514559
1.000 0.179 10 87952125 missense variant C/A snp
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.800 1 2013 2013
dbSNP: rs397514560
rs397514560
1.000 0.179 10 87933151 missense variant C/T snp
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.800 1 2013 2013
dbSNP: rs121909218
rs121909218
0.734 0.286 10 87933145 missense variant G/A snp
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.720 1.000 7 1997 2007
dbSNP: rs786201044
rs786201044
0.878 0.071 10 87933165 missense variant T/C snp
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.710 < 0.001 7 2000 2013
dbSNP: rs562015640
rs562015640
0.821 0.143 10 87960957 missense variant A/G,T snp 1.2E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.710 1.000 4 1998 2008
dbSNP: rs587782350
rs587782350
0.923 0.071 10 87957955 missense variant C/T snp
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
0.710 1.000 2 1999 1999
dbSNP: rs121909236
rs121909236
1.000 0.250 10 87925529 missense variant C/G snp
Vater Association With Macrocephaly And Ventriculomegaly
0.710 1.000 1 2002 2002
dbSNP: rs786204864
rs786204864
0.923 0.071 10 87952136 stop gained C/T snp
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
0.710 1.000 1 2007 2007
dbSNP: rs121909229
rs121909229
0.692 0.321 10 87933148 missense variant G/A,C,T snp
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 20 1998 2017
dbSNP: rs121909229
rs121909229
0.692 0.321 10 87933148 missense variant G/A,C,T snp
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 16 1998 2017
dbSNP: rs121909227
rs121909227
1.000 0.179 10 87957858 stop gained C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 14 2001 2015
dbSNP: rs121909231
rs121909231
0.769 0.250 10 87961095 stop gained C/A,T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 14 2001 2015
dbSNP: rs786201041
rs786201041
10 87961119 splice donor variant G/A,C snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 14 2001 2015
dbSNP: rs786204929
rs786204929
0.821 0.143 10 87933144 missense variant G/A snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 14 2001 2015
dbSNP: rs121909231
rs121909231
0.769 0.250 10 87961095 stop gained C/A,T snp
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 12 1998 2018
dbSNP: rs587782350
rs587782350
0.923 0.071 10 87957955 missense variant C/T snp
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 12 1999 2017
dbSNP: rs121913294
rs121913294
0.923 0.107 10 87952143 stop lost G/A,C,T snp 8.0E-06
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 11 1998 2018
dbSNP: rs398123317
rs398123317
0.784 0.143 10 87925550 missense variant T/A,C snp
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 11 1998 2017
dbSNP: rs1057519724
rs1057519724
10 87933236 missense variant G/T snp
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 10 2004 2012
dbSNP: rs121909219
rs121909219
0.821 0.250 10 87957915 stop gained C/T snp
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 10 1997 2018