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: rs104894332
rs104894332
4 0.851 0.080 12 49955564 missense variant G/A snv 0.700 0
dbSNP: rs1565637179
rs1565637179
1 1.000 12 49955512 frameshift variant G/- delins 0.700 0
dbSNP: rs1565637189
rs1565637189
1 1.000 12 49955518 frameshift variant G/- delins 0.700 0