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: rs137854521
rs137854521
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs375014127
rs375014127
5 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs776474397
rs776474397
1 11 22227300 splice acceptor variant A/G snv 0.700 0
dbSNP: rs886044915
rs886044915
1 11 22236272 missense variant A/C snv 0.700 0