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: rs61752129
rs61752129
14 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 1.000 3 2003 2010
dbSNP: rs62641228
rs62641228
4 0.882 0.080 22 18079935 missense variant C/G;T snv 7.2E-05 0.700 1.000 2 2006 2010
dbSNP: rs1556586479
rs1556586479
1 22 18078561 stop gained G/A snv 0.700 1.000 1 2011 2011