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: rs1358023
rs1358023
TF
1 3 133765549 intron variant T/C snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs150854910
rs150854910
TF
2 3 133757925 missense variant C/T snv 8.4E-04 9.4E-04 0.700 1.000 1 2016 2016
dbSNP: rs6762719
rs6762719
TF
4 3 133761973 non coding transcript exon variant A/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs8177318
rs8177318
7 3 133748533 missense variant T/A snv 1.6E-04 2.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs9843728
rs9843728
TF ; SRPRB
2 3 133782563 3 prime UTR variant C/A;T snv 0.700 1.000 1 2018 2018