rs104894229, LRRC56;HRAS

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.
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
CUI: C3277679
Disease: EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
1 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
GIANT PIGMENTED HAIRY NEVUS
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
6 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
14 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
4 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Nevus sebaceous
CUI: C3854181
Disease: Nevus sebaceous
4 0.564 0.600 11 534289 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 534289 missense variant C/A;G;T snv 0.700 0
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
9 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
THYROID CANCER, NONMEDULLARY, 2
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
13 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Woolly hair nevus
CUI: C0343114
Disease: Woolly hair nevus
1 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
24 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.900 1.000 31 2005 2018
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
8 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Papilloma
CUI: C0030354
Disease: Papilloma
27 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Subglottic stenosis
CUI: C0238441
Disease: Subglottic stenosis
2 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 5 2006 2012