BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs45553935
rs45553935 		0.851 0.200 17 43057122 missense variant A/C;G;T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.800 1.000 3 2013 2018
dbSNP: rs55770810
rs55770810 		0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.800 0
dbSNP: rs1555589094
rs1555589094 		0.925 17 43092822 stop gained A/T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs273899698
rs273899698 		0.851 0.080 17 43092434 stop gained C/A;T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs28897672
rs28897672 		0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs397508838
rs397508838 		0.925 17 43094416 stop gained C/T snv 7.0E-06
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs41293455
rs41293455 		0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs62625307
rs62625307 		0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs797045175
rs797045175 		0.882 0.120 17 43095919 splice acceptor variant ACAC/- delins
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80356880
rs80356880 		0.851 0.080 17 43115750 missense variant G/C;T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80356885
rs80356885 		0.827 0.200 17 43074482 stop gained C/T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80356898
rs80356898 		0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80356962
rs80356962 		0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80356978
rs80356978 		0.827 0.200 17 43092809 stop gained C/A;T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357123
rs80357123 		0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357202
rs80357202 		0.851 0.080 17 43091477 stop gained C/A;G;T snv 2.4E-05
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357346
rs80357346 		0.925 17 43094239 stop gained A/C snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357350
rs80357350 		0.827 0.200 17 43104928 stop gained G/A;C snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357382
rs80357382 		0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357440
rs80357440 		0.827 0.200 17 43091638 stop gained G/A;C;T snv 4.0E-06
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357446
rs80357446 		0.827 0.200 17 43115729 missense variant C/A;T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357475
rs80357475 		0.827 0.200 17 43124094 start lost C/A;G;T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357669
rs80357669 		0.851 0.200 17 43093074 frameshift variant G/- delins
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80358044
rs80358044 		0.827 0.200 17 43074330 splice donor variant C/A;G;T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80358079
rs80358079 		0.827 0.200 17 43057147 intron variant C/T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0