Source: CLINVAR

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: rs113993993
rs113993993
SBDS
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C2684859
Disease: APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs34079299
rs34079299
IFNG ; IFNG-AS1
0.925 0.200 12 68158715 intron variant TGTGTGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTG;TGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTGTG delins
CUI: C2684859
Disease: APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) 		0.700 0