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: rs11240065
rs11240065
1 1 147468451 intron variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs148158062
rs148158062
1 1 147468451 intron variant -/GTTCCTTC delins 0.700 1.000 1 2011 2011
dbSNP: rs56352300
rs56352300
1 1 147468451 intron variant -/GTTCCTTC delins 0.42 0.700 1.000 1 2011 2011