rs104894229, LRRC56;HRAS

N. diseases: 73
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.
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
24 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.900 1.000 31 2005 2018
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Papilloma
CUI: C0030354
Disease: Papilloma
27 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Short neck
CUI: C0521525
Disease: Short neck
29 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Adenoid Cystic Carcinoma
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
30 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Papillary renal cell carcinoma, sporadic
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
30 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Nasopharyngeal Neoplasms
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
36 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
72 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Serous cystadenocarcinoma ovary
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
99 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
108 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 5 2007 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016