rs104894230, HRAS;LRRC56

N. diseases: 36
Source: CLINVAR ×
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.
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
69 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
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
GIANT PIGMENTED HAIRY NEVUS
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
5 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
Malignant neoplasm of urinary bladder
17 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
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
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
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
7 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.720 1.000 0 2012 2019
THYROID CANCER, NONMEDULLARY, 2
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
12 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0