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: rs3217927
rs3217927
CCND2
5 0.827 0.120 12 4302638 3 prime UTR variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs62527607
rs62527607
BAALC ; BAALC-AS2
5 0.827 0.160 8 103141321 non coding transcript exon variant G/T snv 0.14 0.010 1.000 1 2017 2017