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: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 0
dbSNP: rs1555515731
rs1555515731
CDH1
0.882 0.160 16 68812189 frameshift variant T/- delins
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs587776783
rs587776783
RB1 ; LOC112268118
0.851 0.200 13 48373493 splice donor variant G/A snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs786201675
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs121913479
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 1.000 2 1999 2001
dbSNP: rs78311289
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 1.000 2 1999 2001
dbSNP: rs4647924
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs121913483
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.820 1.000 2 1999 2019
dbSNP: rs121434629
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs137853294
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs28897728
rs28897728
BRCA2
1.000 0.120 13 32338940 missense variant G/A snv 3.9E-04 4.3E-04
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs10936599
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.720 1.000 1 2014 2019
dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 1.000 2 2009 2019