Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.830 1.000 7 2005 2017
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		0.800 1.000 0 2012 2012
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.710 1.000 5 2007 2015
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2014 2014
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		0.710 1.000 0 2012 2012
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 3 2006 2018
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		0.700 1.000 1 2013 2013
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		0.700 0
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
SPITZ NEVUS, SOMATIC 		0.700 0