Source: ALL
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: rs2070106
rs2070106
CNP
4 0.925 0.160 17 41973846 synonymous variant G/A snv 0.31 0.25 0.010 1.000 1 2018 2018
dbSNP: rs80358240
rs80358240
MLC1
4 0.851 0.160 22 50064168 missense variant G/T snv 7.0E-06 0.010 1.000 1 2004 2004