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: rs10736390
rs10736390
1 1 54638272 3 prime UTR variant A/G snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs11206397
rs11206397
1 1 54631395 intron variant A/T snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs373739034
rs373739034
1 1 54610465 frameshift variant CTCCACATTCAGACCGTCATCCCCAGGCA/- delins 1.9E-02 3.4E-02 0.700 1.000 1 2018 2018