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: rs1085307958
rs1085307958
2 0.925 7 2544920 missense variant A/G snv 0.700 0
dbSNP: rs200502048
rs200502048
1 1.000 7 2538610 missense variant G/A;C;T snv 3.9E-05 0.700 0
dbSNP: rs730880324
rs730880324
3 0.882 7 2543754 frameshift variant -/T delins 2.5E-04; 2.0E-05 2.3E-04 0.700 0
dbSNP: rs886039312
rs886039312
1 1.000 7 2538710 missense variant G/A snv 4.3E-06 7.0E-06 0.700 0