rs552094593, GBE1

N. diseases: 2
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.
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 1.000 0.080 3 81537021 missense variant G/A;T snv 8.9E-06 0.700 1.000 1 2020 2020
Early severe fetal akinesia sequence
CUI: C3151520
Disease: Early severe fetal akinesia sequence
15 1.000 0.080 3 81537021 missense variant G/A;T snv 8.9E-06 0.700 1.000 1 2020 2020