Source: CLINVAR

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: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.710 1.000 4 1997 2016
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 10 2004 2012
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.700 1.000 8 1997 2014
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 8 1997 2017
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 7 1998 2010
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 4 1999 2010
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
Cerebellar Granule Cell Hypertrophy and Megalencephaly
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C4531112
Disease: Penile freckling
Penile freckling
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
Type 1 Papillary Renal Cell Carcinoma
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0023798
Disease: Lipoma
Lipoma
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
0.700 0
dbSNP: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.700 0