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: rs77960347
rs77960347
5 18 49583585 missense variant A/C;G snv 4.0E-06; 8.7E-03 0.700 1.000 3 2014 2018
dbSNP: rs12970066
rs12970066
1 18 49580782 intron variant C/A;G snv 0.700 1.000 2 2016 2018
dbSNP: rs149615216
rs149615216
2 18 49579658 intron variant C/T snv 5.6E-03 0.700 1.000 2 2017 2018
dbSNP: rs11082764
rs11082764
1 18 49593209 3 prime UTR variant A/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs201922257
rs201922257
2 18 49569492 missense variant C/T snv 1.7E-04 2.7E-04 0.700 1.000 1 2017 2017
dbSNP: rs35816125
rs35816125
2 1.000 0.080 18 49562460 intron variant C/G snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs3786247
rs3786247
2 18 49592553 3 prime UTR variant T/G snv 0.13 0.700 1.000 1 2017 2017