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: rs3833788
rs3833788
1 12 120713260 splice acceptor variant CTCTTGT/-;CTCTTGTCTCTTGT delins 0.37 0.700 1.000 1 2016 2016
dbSNP: rs56273049
rs56273049
1 12 120718238 intron variant A/T snv 0.38 0.700 1.000 1 2019 2019