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: rs121908635
rs121908635
2 0.925 0.120 2 238257003 missense variant T/C snv 0.700 1.000 1 2001 2001
dbSNP: rs1559332542
rs1559332542
1 1.000 2 238271489 frameshift variant G/- delins 0.700 0