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.
GIANT PIGMENTED HAIRY NEVUS
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
6 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
Malignant neoplasm of urinary bladder
316 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
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
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
24 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.830 1.000 16 2005 2017
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.710 1.000 6 2007 2015
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 3 2006 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.710 1.000 2 2014 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
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
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
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
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
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