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: rs1048230
rs1048230
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 < 0.001 1 2000 2000