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: rs17121881
rs17121881
1 11 118210630 missense variant A/T snv 0.54 0.45 0.700 1.000 1 2018 2018
dbSNP: rs4938490
rs4938490
1 11 118210262 intron variant G/A snv 0.45 0.700 1.000 1 2018 2018