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: rs11352199
rs11352199
1 12 120482327 intron variant TT/-;T;TTT;TTTTTTTT;TTTTTTTTTTTTTT delins 0.42 0.700 1.000 1 2016 2016
dbSNP: rs4767902
rs4767902
1 12 120472201 intron variant C/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs558163981
rs558163981
1 12 120472178 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016