RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O ×
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: rs200293302
rs200293302 		0.882 0.200 17 58703201 stop gained C/T snv 4.0E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 5 2012 2016
dbSNP: rs201529791
rs201529791 		0.925 0.200 17 58703280 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs267606997
rs267606997 		0.882 0.120 17 58709926 missense variant G/A snv 4.4E-05; 1.6E-05 2.1E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.800 1.000 4 2010 2015
dbSNP: rs267606999
rs267606999 		0.925 17 58696702 missense variant G/C snv 4.0E-06 1.4E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 8 2010 2016
dbSNP: rs387907159
rs387907159 		0.882 0.200 17 58695182 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2012 2012
dbSNP: rs587780259
rs587780259 		0.882 0.120 17 58709857 splice acceptor variant A/C;G snv 2.0E-05 2.1E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 11 2010 2016
dbSNP: rs587780835
rs587780835 		1.000 17 58734116 splice acceptor variant A/G snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 4 2010 2015
dbSNP: rs587780840
rs587780840 		1.000 17 58692740 frameshift variant CA/- del
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2015 2015
dbSNP: rs587781287
rs587781287 		0.925 17 58724090 stop gained C/A;T snv 8.0E-06 7.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2012 2015
dbSNP: rs587781410
rs587781410 		0.925 17 58732548 inframe deletion GTA/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 7 2003 2017
dbSNP: rs587781490
rs587781490 		0.925 0.120 17 58696790 stop gained A/G;T snv 4.0E-06; 4.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2016 2016
dbSNP: rs587781995
rs587781995 		0.925 17 58724038 splice acceptor variant AG/- del 1.2E-05 7.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 7 2010 2016
dbSNP: rs587782036
rs587782036 		0.925 17 58696692 splice acceptor variant G/A;C snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs587782170
rs587782170 		1.000 17 58694970 frameshift variant AA/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs587782528
rs587782528 		0.882 0.200 17 58692740 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2015 2016
dbSNP: rs587782702
rs587782702 		0.925 17 58720817 splice region variant G/T snv 1.6E-05 1.4E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs587782818
rs587782818 		0.790 0.160 17 58703325 stop gained C/G snv 6.4E-05; 4.0E-06 1.4E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs730881931
rs730881931 		0.925 17 58695191 splice donor variant T/C snv 4.1E-06 7.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 4 2010 2016
dbSNP: rs730881933
rs730881933 		1.000 17 58724101 splice donor variant G/A snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs730881939
rs730881939 		0.851 0.200 17 58695008 stop gained -/A delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 4 2010 2016
dbSNP: rs730881940
rs730881940 		1.000 17 58695174 frameshift variant -/A delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs730881941
rs730881941 		1.000 17 58724037 splice acceptor variant CAGGG/- del
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 4 2010 2016
dbSNP: rs730881942
rs730881942 		0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2011 2016
dbSNP: rs748589398
rs748589398 		1.000 17 58720744 splice acceptor variant A/G;T snv 4.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs754367349
rs754367349 		0.925 17 58709927 frameshift variant T/- del
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2011 2015