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: rs577887768
rs577887768
2 3 132487560 intron variant TTTTTTT/-;T;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs62292950
rs62292950
2 3 132479151 intron variant T/G snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs62292953
rs62292953
2 3 132483605 intron variant T/A snv 0.15 0.16 0.700 1.000 1 2016 2016