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: rs121909076
rs121909076
2 0.925 0.080 6 35503816 missense variant A/G snv 8.0E-06 0.700 0
dbSNP: rs1554125752
rs1554125752
2 0.925 0.080 6 35506146 frameshift variant -/G delins 0.700 0
dbSNP: rs527236117
rs527236117
1 1.000 0.080 6 35511648 missense variant C/T snv 9.4E-06 0.700 0
dbSNP: rs1237263305
rs1237263305
2 0.925 0.080 6 35505772 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015