Source: CURATED

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: rs863225402
rs863225402
MSH6 ; FBXO11
2 47790926 splice acceptor variant G/C snv 7.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2008 2014
dbSNP: rs863225402
rs863225402
MSH6 ; FBXO11
2 47790926 splice acceptor variant G/C snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1800932
rs1800932
MSH6 ; FBXO11
2 47790942 synonymous variant A/G snv 0.13 0.15
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs63751258
rs63751258
MSH6 ; FBXO11
1.000 0.080 2 47790963 missense variant G/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs1553410230
rs1553410230
MSH6 ; FBXO11
1.000 0.160 2 47790975 stop gained C/A;T snv
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs1060502902
rs1060502902
MSH6 ; FBXO11
2 47790981 stop gained G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167776
rs1114167776
MSH6 ; FBXO11
1.000 0.120 2 47791020 frameshift variant -/T delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1114167776
rs1114167776
MSH6 ; FBXO11
1.000 0.120 2 47791020 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1553410300
rs1553410300
MSH6 ; FBXO11
2 47791040 frameshift variant AATCAGTCC/T delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1114167689
rs1114167689
MSH6 ; FBXO11
2 47791043 stop gained C/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167689
rs1114167689
MSH6 ; FBXO11
2 47791043 stop gained C/G snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs63750143
rs63750143
MSH6 ; FBXO11
1.000 0.160 2 47791049 missense variant G/A;T snv
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 12 1997 2017
dbSNP: rs786202193
rs786202193
MSH6 ; FBXO11
2 47791059 frameshift variant TTTTTTGATGACAG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587782101
rs587782101
MSH6 ; FBXO11
2 47791060 stop gained C/G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 1 2011 2011
dbSNP: rs1553410342
rs1553410342
MSH6 ; FBXO11
2 47791085 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167728
rs1114167728
MSH6 ; FBXO11
2 47791089 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167728
rs1114167728
MSH6 ; FBXO11
2 47791089 frameshift variant C/- del
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs63750342
rs63750342
MSH6 ; FBXO11
0.925 0.160 2 47791092 stop gained G/A snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 3 1999 2004
dbSNP: rs63750342
rs63750342
MSH6 ; FBXO11
0.925 0.160 2 47791092 stop gained G/A snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 0
dbSNP: rs3211299
rs3211299
MSH6 ; FBXO11
0.882 0.200 2 47791097 missense variant G/T snv 9.4E-04 1.5E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs3211299
rs3211299
MSH6 ; FBXO11
0.882 0.200 2 47791097 missense variant G/T snv 9.4E-04 1.5E-03
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs1060502875
rs1060502875
MSH6 ; FBXO11
2 47791106 frameshift variant TT/-;TTT delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs267608036
rs267608036
MSH6 ; FBXO11
1.000 0.160 2 47791125 splice donor variant T/A snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 0
dbSNP: rs267608035
rs267608035
MSH6 ; FBXO11
1.000 0.160 2 47795893 splice acceptor variant G/A snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 0
dbSNP: rs1553411391
rs1553411391
MSH6 ; FBXO11
2 47795897 stop gained C/G snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0