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: rs797044873
rs797044873
4 0.925 0.040 20 10284751 missense variant G/T snv 0.700 0
dbSNP: rs876657679
rs876657679
2 1.000 0.160 19 13913639 splice donor variant G/T snv 0.700 1.000 1 2014 2014