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: rs765368797
rs765368797
1.000 5 138570987 missense variant T/C snv 4.0E-06
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME
0.810 1.000 2 2015 2019
dbSNP: rs751478142
rs751478142
1.000 5 138570994 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME
0.810 1.000 1 2019 2019
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: rs772570880
rs772570880
1.000 5 138566715 frameshift variant CT/- del 6.3E-05
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME
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
dbSNP: rs201894482
rs201894482
5 138557977 missense variant G/A snv 6.0E-05 2.1E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs751478142
rs751478142
1.000 5 138570994 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 < 0.001 1 2015 2015