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: rs2228213
rs2228213
1 6 12124622 missense variant G/A snv 0.30 0.26 0.700 1.000 6 2015 2019
dbSNP: rs10947793
rs10947793
1 6 12142584 intron variant A/G snv 0.28 0.700 1.000 1 2019 2019