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: 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: rs121917759
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.800 1.000 9 2005 2014
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.800 1.000 7 2005 2010
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2016 2016
dbSNP: rs104894227
rs104894227
HRAS ; LRRC56
1.000 0.080 11 533553 missense variant T/C snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.810 1.000 11 2005 2018
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: 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: 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: 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: rs1057519855
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2014 2014
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016