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: rs763817505
rs763817505
1.000 5 138570960 frameshift variant AT/- del 1.2E-05
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4
0.700 0
dbSNP: rs768283289
rs768283289
1.000 5 138567537 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4
0.700 0
dbSNP: rs869312659
rs869312659
1.000 5 138559896 inframe deletion TTAATA/- delins
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4
0.700 0