Source: ALL

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: rs552094593
rs552094593
GBE1
1.000 0.080 3 81537021 missense variant G/A;T snv 8.9E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.700 1.000 1 2020 2020