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.
Poor respiratory effort
CUI: C3808548
Disease: Poor respiratory effort
1 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 5 2006 2012
Alveolar rhabdomyosarcoma
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
1 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
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
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
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
Noonan syndrome-like disorder with loose anagen hair
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
3 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
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
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
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
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
Adult Fibrosarcoma
CUI: C0278595
Disease: Adult Fibrosarcoma
9 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
Fibrosarcoma
CUI: C0016057
Disease: Fibrosarcoma
9 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
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
Adult Rhabdomyosarcoma
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
12 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
Childhood Rhabdomyosarcoma
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
12 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
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
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
14 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
16 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.710 1.000 1 2019 2019
Thyroid Nodule
CUI: C0040137
Disease: Thyroid Nodule
17 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
Rhabdomyosarcoma
CUI: C0035412
Disease: Rhabdomyosarcoma
20 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010
Neoplasm, Residual
CUI: C0242596
Disease: Neoplasm, Residual
23 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
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