Source: CURATED

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: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.700 0
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		0.700 0
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		0.700 0
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		0.700 0
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		0.700 0
dbSNP: rs121917756
rs121917756
HRAS ; LRRC56
0.925 0.120 11 533869 missense variant C/T snv
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		0.700 0
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		0.700 0
dbSNP: rs28933406
rs28933406
HRAS ; LRRC56
0.667 0.480 11 533875 missense variant G/C;T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 0
dbSNP: rs28933406
rs28933406
HRAS ; LRRC56
0.667 0.480 11 533875 missense variant G/C;T snv
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		0.700 0
dbSNP: rs35613389
rs35613389
HRAS ; LRRC56
1.000 0.080 11 533309 frameshift variant G/-;GG delins
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.700 0
dbSNP: rs398122808
rs398122808
HRAS ; LRRC56
1.000 0.080 11 534210 coding sequence variant -/CTC delins
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.700 0
dbSNP: rs398122809
rs398122809
HRAS ; LRRC56
1.000 0.080 11 534212 inframe insertion -/TCT delins
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.700 0
dbSNP: rs587777239
rs587777239
HRAS ; LRRC56
1.000 0.080 11 533848 inframe insertion -/GTCCCGCATGGCGCTGTACTC delins
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.700 0
dbSNP: rs727504747
rs727504747
HRAS ; LRRC56
1.000 0.080 11 533880 missense variant GC/AG mnv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.700 0
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 2 1986 1991
dbSNP: rs28933406
rs28933406
HRAS ; LRRC56
0.667 0.480 11 533875 missense variant G/C;T snv
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		0.800 1.000 1 2003 2003
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2005 2005
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		0.700 1.000 1 2005 2005
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		0.700 1.000 1 2005 2005
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0343643
Disease: Facial wart
Facial wart 		0.700 1.000 1 2005 2005
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0002170
Disease: Alopecia
Alopecia 		0.700 1.000 1 2005 2005
dbSNP: rs121917756
rs121917756
HRAS ; LRRC56
0.925 0.120 11 533869 missense variant C/T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.710 1.000 1 2007 2007
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		0.700 1.000 9 2005 2009