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: rs13394619
rs13394619
1 1.000 0.040 2 11587381 splice acceptor variant G/A snv 0.53 0.61 0.840 1.000 4 2012 2015
dbSNP: rs11674184
rs11674184
1 1.000 0.040 2 11581409 intron variant T/A;G snv 0.710 0.500 2 2017 2019
dbSNP: rs77294520
rs77294520
1 1.000 0.040 2 11520829 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017