Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564794233
rs1564794233
SMC3
1 1.000 0.080 10 110596545 missense variant T/C snv 0.700 1.000 1 2019 2019