rs267607038, SETBP1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
8 0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06 0.800 1.000 3 2010 2017
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2020 2020
Early severe fetal akinesia sequence
CUI: C3151520
Disease: Early severe fetal akinesia sequence
15 0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2020 2020
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2013 2013