Source: UNIPROT

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
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 1.000 0 2011 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.820 1.000 1 2005 2019
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.810 1.000 1 2007 2012
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.810 1.000 0 2015 2015
dbSNP: rs104894359
rs104894359
0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
0.800 1.000 7 2006 2011
dbSNP: rs104894364
rs104894364
0.925 0.160 12 25227351 missense variant G/A snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
0.800 1.000 7 2006 2011
dbSNP: rs104894365
rs104894365
0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
0.800 1.000 6 2006 2014
dbSNP: rs104894366
rs104894366
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
0.800 1.000 6 2006 2014
dbSNP: rs193929331
rs193929331
0.925 0.160 12 25245372 missense variant T/C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
0.800 1.000 6 2006 2011
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: 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 5 2006 2014
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: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0.923 0 1999 2020
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
Malignant neoplasm of urinary bladder
0.800 0
dbSNP: rs727503110
rs727503110
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: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.770 1.000 0 2011 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.710 1.000 3 1987 2004
dbSNP: rs121913240
rs121913240
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.710 1.000 0 2017 2017
dbSNP: rs104894361
rs104894361
0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.700 1.000 3 1987 2003
dbSNP: rs121913528
rs121913528
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.700 1.000 3 1987 2003
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.700 1.000 3 1987 2003
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.700 0
dbSNP: rs121913527
rs121913527
0.807 0.320 12 25225628 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs17851045
rs17851045
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.700 0