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: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.030 0.667 3 2016 2019
dbSNP: rs393795
rs393795
4 0.851 0.160 5 1428399 intron variant G/T snv 0.28 0.030 1.000 3 2014 2019
dbSNP: rs6347
rs6347
4 0.851 0.080 5 1411297 synonymous variant T/C snv 0.23 0.32 0.020 0.500 2 2002 2002
dbSNP: rs3836790
rs3836790
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 < 0.001 1 2016 2016
dbSNP: rs40184
rs40184
5 0.851 0.120 5 1394962 intron variant C/T snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs429699
rs429699
3 0.925 0.080 5 1409012 intron variant T/C snv 0.96 0.98 0.010 < 0.001 1 2019 2019
dbSNP: rs750196294
rs750196294
2 1.000 0.040 5 1416151 synonymous variant G/A snv 2.4E-05 0.010 1.000 1 2004 2004