Source: CLINVAR

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: 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: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 16 2005 2015
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 5 1987 2012
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 3 2002 2008
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 1.000 2 2008 2011
dbSNP: rs112445441
rs112445441
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
0.658 0.400 12 25245347 missense variant C/A;G;T snv
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
0.700 0