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: rs121913156
rs121913156
2 0.925 0.120 19 7120677 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs797045624
rs797045624
1 1.000 0.040 19 7167966 splice donor variant A/G snv 7.0E-06 0.700 0