Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q ×
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: rs397509402
rs397509402 		1.000 16 13928132 missense variant T/C snv 4.0E-06
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.800 1.000 2 2013 2013
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 1.000 6 2010 2016
dbSNP: rs1451008479
rs1451008479 		1.000 16 13947953 missense variant C/T snv 4.0E-06
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 1.000 2 2013 2013
dbSNP: rs1555468482
rs1555468482 		0.882 0.240 16 13935663 frameshift variant C/- del
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 1.000 1 2013 2013
dbSNP: rs149364215
rs149364215 		1.000 16 13947661 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 0
dbSNP: rs397509400
rs397509400 		0.925 16 13935414 splice donor variant CTCAA/- delins
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 0
dbSNP: rs397509401
rs397509401 		1.000 16 13947966 frameshift variant -/CTTACACTTCACTTCCCCAGACTACGGA delins
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 0