KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894366
rs104894366 		0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 6 2006 2014
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 1.000 6 2012 2019
dbSNP: rs104894359
rs104894359 		0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 5 2006 2012
dbSNP: rs387907205
rs387907205 		0.925 0.160 12 25227313 missense variant A/C;G snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 5 2006 2012
dbSNP: rs387907206
rs387907206 		1.000 12 25225625 missense variant T/C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 5 2006 2012
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 1.000 4 2014 2019
dbSNP: rs104894366
rs104894366 		0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 3 2006 2011
dbSNP: rs104894366
rs104894366 		0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 2006 2011
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C4049272
Disease: Tumour budding
Tumour budding 		0.020 1.000 2 2015 2017
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 1.000 2 2012 2017
dbSNP: rs121913530
rs121913530 		0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2019 2019
dbSNP: rs712
rs712 		0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2019
dbSNP: rs104894359
rs104894359 		0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2001 2001
dbSNP: rs104894365
rs104894365 		0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1402294
Disease: Primary Lesion
Primary Lesion 		0.010 1.000 1 2019 2019
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C4049272
Disease: Tumour budding
Tumour budding 		0.010 1.000 1 2015 2015
dbSNP: rs1137282
rs1137282 		0.851 0.120 12 25209843 missense variant A/G;T snv 0.19
CUI: C3146257
Disease: Stage II Colon Cancer AJCC v7
Stage II Colon Cancer AJCC v7 		0.010 1.000 1 2018 2018
dbSNP: rs1137282
rs1137282 		0.851 0.120 12 25209843 missense variant A/G;T snv 0.19
CUI: C4525119
Disease: Stage II Colon Cancer AJCC v8
Stage II Colon Cancer AJCC v8 		0.010 1.000 1 2018 2018
dbSNP: rs121913238
rs121913238 		0.732 0.240 12 25227343 missense variant G/C;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs121913240
rs121913240 		0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 1.000 1 1997 1997
dbSNP: rs121913240
rs121913240 		0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C1334282
Disease: Inverted urothelial papilloma
Inverted urothelial papilloma 		0.010 1.000 1 2014 2014
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2014 2014
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C3160815
Disease: Intraductal papillary mucinous neoplasm
Intraductal papillary mucinous neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C4698657
Disease: T-cell lymphoblastic leukemia/lymphoma
T-cell lymphoblastic leukemia/lymphoma 		0.010 1.000 1 2013 2013
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C4525119
Disease: Stage II Colon Cancer AJCC v8
Stage II Colon Cancer AJCC v8 		0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0278506
Disease: Non-small cell lung cancer stage III
Non-small cell lung cancer stage III 		0.010 1.000 1 2013 2013