rs104894230, HRAS;LRRC56

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, SEVERE
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
1 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
4 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
Nevus sebaceous
CUI: C3854181
Disease: Nevus sebaceous
4 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
Acute monoblastic leukemia
CUI: C0457334
Disease: Acute monoblastic leukemia
5 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
Adult Acute Monoblastic Leukemia
CUI: C0279629
Disease: Adult Acute Monoblastic Leukemia
5 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
Childhood Acute Monoblastic Leukemia
5 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
GIANT PIGMENTED HAIRY NEVUS
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
6 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
Nevus Sebaceus of Jadassohn
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
7 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
Thymic Carcinoma
CUI: C0205969
Disease: Thymic Carcinoma
8 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
9 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.720 1.000 2 2012 2019
Adult Pilocytic Astrocytoma
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
10 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
Childhood Pilocytic Astrocytoma
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
10 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
Ductal Carcinoma
CUI: C1176475
Disease: Ductal Carcinoma
11 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
THYROID CANCER, NONMEDULLARY, 2
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
13 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
14 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
Pilocytic Astrocytoma
CUI: C0334583
Disease: Pilocytic Astrocytoma
14 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
Precancerous Conditions
CUI: C0032927
Disease: Precancerous Conditions
18 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
Thymoma
CUI: C0040100
Disease: Thymoma
20 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
22 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
24 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.840 1.000 23 1990 2019
Papilloma
CUI: C0030354
Disease: Papilloma
27 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
Adenoid Cystic Carcinoma
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
30 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Papillary renal cell carcinoma, sporadic
30 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016