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: 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: 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: 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: 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: 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: 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: rs876658644
rs876658644 		1.000 17 58703330 splice donor variant G/A snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 4 2010 2016
dbSNP: rs145310733
rs145310733 		1.000 17 58703194 splice acceptor variant A/G snv 4.0E-06 1.4E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs1567789009
rs1567789009 		1.000 17 58696861 splice donor variant T/A snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
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: 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: 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: 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: 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: rs757128712
rs757128712 		1.000 17 58692789 splice donor variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs1555605074
rs1555605074 		1.000 17 58732512 stop gained C/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2003 2017
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: 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: rs767796996
rs767796996 		0.827 0.200 17 58695189 stop gained G/A;C snv 4.1E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2012 2017
dbSNP: rs770637624
rs770637624 		0.882 0.200 17 58709862 stop gained C/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 2 2014 2017
dbSNP: rs779582317
rs779582317 		1.000 17 58724038 splice acceptor variant A/C;G snv 1.2E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2013 2016
dbSNP: rs1555605532
rs1555605532 		1.000 17 58734130 stop gained A/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2003 2003
dbSNP: rs759292615
rs759292615 		1.000 17 58732523 stop gained C/A;T snv 8.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2003 2003
dbSNP: rs1057517641
rs1057517641 		0.925 17 58692790 splice donor variant T/G snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0