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: rs727503774
rs727503774
SMC1A
2 0.925 0.240 X 53383255 splice acceptor variant T/C snv 0.700 0