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: rs10876550
rs10876550
2 12 54318524 intron variant G/A snv 0.68 0.800 1.000 1 2011 2014
dbSNP: rs60822569
rs60822569
1 12 54323725 intron variant TTCTC/-;TTCTCTTCTC;TTCTCTTCTCTTCTC delins 0.700 1.000 1 2016 2016