rs1057519946, PPP2R1A

N. diseases: 18
Source: ALL
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.
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
108 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Serous cystadenocarcinoma ovary
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
99 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
348 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Aqueductal Stenosis
CUI: C2936786
Disease: Aqueductal Stenosis
2 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
Clinodactyly of the thumb
CUI: C1856888
Disease: Clinodactyly of the thumb
1 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
Electrocardiogram change
CUI: C0855329
Disease: Electrocardiogram change
27 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
5 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.732 0.280 19 52212729 missense variant C/G;T snv 0.010 1.000 1 2020 2020