rs121909219, PTEN

N. diseases: 24
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
98 0.689 0.400 10 87957915 stop gained C/A;T snv 0.710 1.000 4 1997 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 10 2004 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 8 1997 2017
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
193 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 8 1997 2014
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
82 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 7 1998 2010
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 4 1999 2010
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
70 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
31 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
28 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Intracranial Meningioma
CUI: C0349604
Disease: Intracranial Meningioma
3 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
58 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Lipoma
CUI: C0023798
Disease: Lipoma
8 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
21 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
4 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Penile freckling
CUI: C4531112
Disease: Penile freckling
11 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Thyroid Nodule
CUI: C0040137
Disease: Thyroid Nodule
5 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
Type 1 Papillary Renal Cell Carcinoma
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
3 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0