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
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
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
8 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
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
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
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
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
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
Subglottic stenosis
CUI: C0238441
Disease: Subglottic stenosis
2 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 5 2006 2012
Poor respiratory effort
CUI: C3808548
Disease: Poor respiratory effort
1 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 5 2006 2012
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
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 3 2006 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.020 1.000 2 2012 2020
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.020 1.000 2 2016 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.020 1.000 2 2012 2020
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 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
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
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
Adult Fibrosarcoma
CUI: C0278595
Disease: Adult Fibrosarcoma
9 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
Adult Rhabdomyosarcoma
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
12 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
Alveolar rhabdomyosarcoma
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
1 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019