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: 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
dbSNP: rs1060502601
rs1060502601 		0.882 0.200 17 58709884 frameshift variant T/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2015 2016
dbSNP: rs1060502605
rs1060502605 		1.000 17 58720757 frameshift variant ATCA/-;ATCAATCA delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1064792966
rs1064792966 		1.000 17 58734147 frameshift variant TCTGCATGTT/- delins 7.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2003 2003
dbSNP: rs1327086366
rs1327086366 		0.925 0.200 17 58696858 splice donor variant G/- delins 4.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
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: rs1555591851
rs1555591851 		1.000 17 58692691 frameshift variant T/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1555593616
rs1555593616 		1.000 17 58695035 stop gained A/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1555593715
rs1555593715 		1.000 17 58695097 stop gained T/A snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1555594864
rs1555594864 		1.000 17 58696823 frameshift variant C/- del
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1555597094
rs1555597094 		1.000 17 58703213 stop gained G/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1555599288
rs1555599288 		1.000 17 58709991 splice donor variant G/- del
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs1555602141
rs1555602141 		0.925 0.200 17 58720795 frameshift variant TTGTTCCTGC/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2015 2015
dbSNP: rs1555603011
rs1555603011 		1.000 17 58724043 frameshift variant A/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1555603056
rs1555603056 		1.000 17 58724097 frameshift variant A/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2003 2003
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: 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: rs1567782755
rs1567782755 		1.000 17 58692674 stop gained C/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567782936
rs1567782936 		1.000 17 58692716 frameshift variant G/TTC delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567785872
rs1567785872 		0.925 0.120 17 58694984 stop gained G/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567786509
rs1567786509 		1.000 17 58695148 frameshift variant AGAAATTTG/C delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
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: rs1567799818
rs1567799818 		1.000 17 58709955 stop gained C/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567799943
rs1567799943 		0.925 0.200 17 58709992 splice donor variant T/C snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567817415
rs1567817415 		0.925 0.200 17 58732517 frameshift variant G/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0