Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 10 1993 2014
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 7 1993 2017
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1993 2017
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		0.700 0