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: rs387906702
rs387906702
SMC1A
16 0.807 0.200 X 53403635 missense variant A/G snv 0.800 1.000 8 2006 2013