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: rs1423415130
rs1423415130
6 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs797044806
rs797044806
3 0.925 17 50354465 frameshift variant -/C delins 0.700 0
dbSNP: rs797044807
rs797044807
1 1.000 17 50354013 frameshift variant G/- delins 0.700 0
dbSNP: rs4364254
rs4364254
3 0.882 0.080 4 83302560 intron variant C/T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs4693608
rs4693608
6 0.827 0.200 4 83320204 intron variant G/A;C snv 0.010 1.000 1 2015 2015