Source: ALL

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: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 0
dbSNP: rs727503110
rs727503110
KRAS
0.882 0.160 12 25245320 missense variant T/A;C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		0.700 0
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		0.700 0
dbSNP: rs104894361
rs104894361
KRAS
0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.700 0
dbSNP: rs104894362
rs104894362
KRAS
0.882 0.200 12 25209894 missense variant G/C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.700 0
dbSNP: rs104894367
rs104894367
KRAS
1.000 0.160 12 25209907 missense variant A/C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 0
dbSNP: rs112445441
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 0
dbSNP: rs112445441
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		0.700 0
dbSNP: rs112445441
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.700 0
dbSNP: rs1135401776
rs1135401776
KRAS
1.000 0.160 12 25225624 missense variant T/C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 0
dbSNP: rs1135401776
rs1135401776
KRAS
1.000 0.160 12 25225624 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs121913240
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 0
dbSNP: rs121913527
rs121913527
KRAS
0.807 0.320 12 25225628 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs121913527
rs121913527
KRAS
0.807 0.320 12 25225628 missense variant C/A;G;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 0