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: rs1057519927
rs1057519927
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 2006 2018
dbSNP: rs1057519927
rs1057519927
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 14 2006 2018
dbSNP: rs121913273
rs121913273
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 14 2004 2016
dbSNP: rs867262025
rs867262025
0.790 0.360 3 179221146 missense variant G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 2006 2018
dbSNP: rs121913273
rs121913273
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 12 2004 2014
dbSNP: rs121913273
rs121913273
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 12 2004 2016
dbSNP: rs121913274
rs121913274
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 12 2004 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 11 2004 2016
dbSNP: rs397517201
rs397517201
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 11 2004 2016
dbSNP: rs1057519699
rs1057519699
3 179218315 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 10 2004 2012
dbSNP: rs121913274
rs121913274
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 10 2004 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 9 2004 2016
dbSNP: rs397517201
rs397517201
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 9 2004 2016
dbSNP: rs1057519699
rs1057519699
3 179218315 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 8 2004 2012
dbSNP: rs397517201
rs397517201
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 1.000 4 2006 2010
dbSNP: rs1064793732
rs1064793732
0.882 0.320 3 179204536 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 1.000 3 2008 2016
dbSNP: rs121913281
rs121913281
0.623 0.520 3 179234296 missense variant C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 1.000 3 2007 2016
dbSNP: rs121913284
rs121913284
0.776 0.160 3 179203765 missense variant T/A;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 3 2009 2016
dbSNP: rs121913287
rs121913287
0.752 0.400 3 179199088 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 3 2009 2016
dbSNP: rs121913272
rs121913272
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 2 2014 2016
dbSNP: rs121913272
rs121913272
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 2 2014 2016
dbSNP: rs121913273
rs121913273
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 1.000 2 2005 2012
dbSNP: rs121913274
rs121913274
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2014 2014
dbSNP: rs121913274
rs121913274
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 1.000 2 2005 2012
dbSNP: rs121913277
rs121913277
0.925 0.280 3 179234302 missense variant G/A;C snv
Malignant neoplasm of floor of mouth
0.700 1.000 2 2011 2014