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: rs730882147
rs730882147
5 0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs895293055
rs895293055
5 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015