rs104894228, LRRC56;HRAS

N. diseases: 48
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.
NEVUS SPILUS, SOMATIC
CUI: C4225657
Disease: NEVUS SPILUS, SOMATIC
1 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
SPITZ NEVUS, SOMATIC
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
1 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
THYROID CANCER, NONMEDULLARY, 2
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
13 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
Adult Rhabdomyosarcoma
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
12 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
20 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
Childhood Rhabdomyosarcoma
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
12 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
Eccrine porocarcinoma
CUI: C1266065
Disease: Eccrine porocarcinoma
11 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
103 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
Nevus
CUI: C0027960
Disease: Nevus
43 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Noonan syndrome-like disorder with loose anagen hair
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
3 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Rhabdomyosarcoma
CUI: C0035412
Disease: Rhabdomyosarcoma
20 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
Trichoepithelioma
CUI: C0349658
Disease: Trichoepithelioma
3 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017